Submissions for variant NM_000170.3(GLDC):c.40C>A (p.Arg14Ser)

gnomAD frequency: 0.00197  dbSNP: rs182760732

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000559475	SCV000636405	likely benign	Glycine encephalopathy	2025-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001545374	SCV001764698	likely benign	not provided	2021-04-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004629237	SCV005123565	uncertain significance	Inborn genetic diseases	2024-05-28	criteria provided, single submitter	clinical testing	The c.40C>A (p.R14S) alteration is located in exon 1 (coding exon 1) of the GLDC gene. This alteration results from a C to A substitution at nucleotide position 40, causing the arginine (R) at amino acid position 14 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc.	RCV000559475	SCV001458175	likely benign	Glycine encephalopathy	2020-09-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925634	SCV004744137	likely benign	GLDC-related disorder	2024-04-02	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).