Submissions for variant NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=)

gnomAD frequency: 0.00150  dbSNP: rs138886791

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000195070	SCV000246636	likely benign	not specified	2019-01-18	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000195070	SCV000338234	likely benign	not specified	2016-01-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000871111	SCV000518510	likely benign	not provided	2021-10-18	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000195070	SCV000612469	benign	not specified	2017-02-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088570	SCV001012715	benign	ALG9 congenital disorder of glycosylation	2024-01-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000871111	SCV001148857	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	ATP6V0A2: BP4, BS2
Illumina Laboratory Services, Illumina	RCV001109061	SCV001266368	uncertain significance	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, 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.
PreventionGenetics, part of Exact Sciences	RCV003917736	SCV004746194	likely benign	ATP6V0A2-related disorder	2020-01-14	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).