Submissions for variant NM_020632.3(ATP6V0A4):c.2035G>T (p.Asp679Tyr)

gnomAD frequency: 0.00506  dbSNP: rs150777839

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000254069	SCV000313642	likely benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000958607	SCV001105472	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001159172	SCV001320860	benign	Autosomal recessive distal renal tubular acidosis	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000958607	SCV001950529	benign	not provided	2020-03-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24252324, 28233610, 16611712, 27884173)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000254069	SCV002103954	benign	not specified	2022-02-18	criteria provided, single submitter	clinical testing	Variant summary: ATP6V0A4 c.2035G>T (p.Asp679Tyr) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0061 in 251434 control chromosomes in the gnomAD database, including 13 homozygotes. The observed variant frequency is approximately 5.4 fold of the estimated maximal expected allele frequency for a pathogenic variant in ATP6V0A4 causing Renal Tubular Acidosis, Distal, Autosomal Recessive phenotype (0.0011), strongly suggesting that the variant is benign. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign. Based on the evidence outlined above, the variant was classified as benign.
CeGaT Center for Human Genetics Tuebingen	RCV000958607	SCV004161101	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	ATP6V0A4: BP4, BS2