Submissions for variant NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln)

gnomAD frequency: 0.00727  dbSNP: rs7969410

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224010	SCV000280734	likely benign	not provided	2015-04-20	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000419132	SCV000523104	benign	not specified	2016-07-11	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.
Invitae	RCV001089165	SCV001013377	benign	ALG9 congenital disorder of glycosylation	2024-01-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001109058	SCV001266365	benign	Cutis laxa with osteodystrophy	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
PreventionGenetics, part of Exact Sciences	RCV003919901	SCV004732391	benign	ATP6V0A2-related condition	2019-07-18	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).