Submissions for variant NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)

gnomAD frequency: 0.00035  dbSNP: rs143142641

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723907	SCV000202206	uncertain significance	not provided	2014-03-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000194414	SCV000246635	likely benign	not specified	2016-11-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000322153	SCV000376929	likely benign	Cutis laxa with osteodystrophy	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088927	SCV001018369	benign	ALG9 congenital disorder of glycosylation	2024-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000723907	SCV001939706	benign	not provided	2020-09-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000723907	SCV002821747	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	ATP6V0A2: BP4, BS2
Ambry Genetics	RCV003338429	SCV004058147	likely benign	Inborn genetic diseases	2023-09-08	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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000723907	SCV001797410	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000723907	SCV001973154	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003895048	SCV004711238	likely benign	ATP6V0A2-related disorder	2019-09-27	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).