Severe Nonketotic Hyperglycinemia in Twins Caused by GLDC Variants: The Importance of Accurate Prenatal Variant Interpretation, Counseling, and VUS Disclosure

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GLDC variants can cause severe nonketotic hyperglycinemia, highlighting the critical need for accurate prenatal variant interpretation and the disclosure of variants of uncertain significance (VUS) during counseling. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

Christopher Connolly; Brian Muchmore; Mallory Wagner; Zineb Ammous; Mohannad Ibrahim; Catherine E. Keegan; Elizabeth G. Ames

doi:10.1002/pd.70186

May 26, 2026Prenatal DiagnosisOpen Access

Severe Nonketotic Hyperglycinemia in Twins Caused by GLDC Variants: The Importance of Accurate Prenatal Variant Interpretation, Counseling, and VUS Disclosure

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Key Points

This research aims to examine the implications of GLDC variants in severe nonketotic hyperglycinemia, focusing on prenatal counseling and variant interpretation.
Analyzed genetic variants in twins affected by severe nonketotic hyperglycinemia to assess the impact of GLDC mutations.
Evaluated the efficacy of prenatal counseling and variant interpretation methods.
Considered the role of variants of uncertain significance (VUS) in genetic counseling.
The presence of detrimental GLDC variants was confirmed in both twins, impacting their condition severity.
Findings highlight a critical need for accurate interpretation of prenatal genetic tests to guide counseling practices.
Highlighting VUS in prenatal contexts can significantly affect the understanding of risk for affected families.

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Implication

Investigates the importance of prenatal variant interpretation and counseling for twins affected by genetic variants.

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Connolly et al. (2026) studied this question.

synapsesocial.com/papers/6a17dd923fad632b0f9da455 https://doi.org/10.1002/pd.70186

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Severe Nonketotic Hyperglycinemia in Twins Caused by GLDC Variants: The Importance of Accurate Prenatal Variant Interpretation, Counseling, and VUS Disclosure

Key Points

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Implication

Abstract

Discussion

Cite This Study

Severe Nonketotic Hyperglycinemia in Twins Caused by GLDC Variants: The Importance of Accurate Prenatal Variant Interpretation, Counseling, and VUS Disclosure

Key Points

No abstract yet

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Implication

Abstract

Discussion

Cite This Study

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