Submissions for variant NM_000159.4(GCDH):c.38G>A (p.Arg13His)

gnomAD frequency: 0.00003  dbSNP: rs550100640

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000910751	SCV001055639	benign	Glutaric aciduria, type 1	2024-01-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000910751	SCV001282948	uncertain significance	Glutaric aciduria, type 1	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV003229000	SCV003925979	likely benign	not provided	2022-08-17	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen	RCV003229000	SCV004137931	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	GCDH: BS2
Natera, Inc.	RCV000910751	SCV001455950	benign	Glutaric aciduria, type 1	2020-06-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003950728	SCV004756991	likely benign	GCDH-related disorder	2022-04-06	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).