Submissions for variant NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val)

gnomAD frequency: 0.02527  dbSNP: rs17883456

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081549	SCV000113480	benign	not specified	2013-10-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000358680	SCV000376944	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000081549	SCV000518671	benign	not specified	2016-01-22	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	RCV000538030	SCV000639049	benign	ALG9 congenital disorder of glycosylation	2024-01-31	criteria provided, single submitter	clinical testing
SIB Swiss Institute of Bioinformatics	RCV000081549	SCV000803572	benign	not specified	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Benign - Stand Alone. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in gnomAD (Ashkenazi Jewish population) and about 3% in other populations in Exome Aggregation Consortium.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000081549	SCV001953919	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000081549	SCV001966547	benign	not specified		no assertion criteria provided	clinical testing