Submissions for variant NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=)

gnomAD frequency: 0.00025  dbSNP: rs201566142

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000173236	SCV000166967	benign	not specified	2014-01-31	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000173236	SCV000224331	likely benign	not specified	2014-12-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000468162	SCV000561545	benign	Pyridoxine-dependent epilepsy	2025-01-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312543	SCV000847186	likely benign	Inborn genetic diseases	2016-07-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Athena Diagnostics	RCV000173236	SCV001476894	benign	not specified	2024-08-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000468162	SCV004050476	likely benign	Pyridoxine-dependent epilepsy	2023-04-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003430685	SCV004159283	likely benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	ALDH7A1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003925227	SCV004746897	likely benign	ALDH7A1-related disorder	2019-04-26	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).