Submissions for variant NM_020632.3(ATP6V0A4):c.5T>C (p.Val2Ala)

gnomAD frequency: 0.69303  dbSNP: rs10258719

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245255	SCV000313643	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000357816	SCV000466926	benign	Autosomal recessive distal renal tubular acidosis	2018-01-12	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000245255	SCV000711930	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Val2Ala in exon 3 of ATP6V0A4: This variant is not expected to have clinical s ignificance because it has been identified in 77.42% (12784/16512) of South Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs10258719).
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV001258276	SCV001435201	benign	Bailey-Bloch congenital myopathy		criteria provided, single submitter	research	The homozygous p.Val2Ala variant in ATP6V0A4 has been identified in a Turkish individual with sensorineural hearing loss and distal renal tubular acidosis from a consanguineous family (PMID: 24564331). However, this variant is classified as benign for autosomal recessive sensorineural hearing loss and distal renal tubular acidosis because it has been identified in >70% of chromosomes by ExAC (http://gnomad.broadinstitute.org/).
Invitae	RCV001515793	SCV001723949	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000357816	SCV001775327	benign	Autosomal recessive distal renal tubular acidosis	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001515793	SCV001950528	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24564331, 27535533)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000245255	SCV002050728	benign	not specified	2021-12-03	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000245255	SCV001741994	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000245255	SCV001953190	benign	not specified		no assertion criteria provided	clinical testing