Submissions for variant NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=)

gnomAD frequency: 0.66054  dbSNP: rs1399961

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081553	SCV000113484	benign	not specified	2012-07-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081553	SCV000311937	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000369580	SCV000376918	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	RCV000081553	SCV000517510	benign	not specified	2016-01-11	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001516702	SCV001725020	benign	ALG9 congenital disorder of glycosylation	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000369580	SCV001775056	benign	Cutis laxa with osteodystrophy	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001553945	SCV001775057	benign	Wrinkly skin syndrome	2021-07-14	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004706502	SCV005235051	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000081553	SCV001739766	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000081553	SCV001953205	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000081553	SCV001975098	benign	not specified		no assertion criteria provided	clinical testing