Submissions for variant NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val)

dbSNP: rs145735762

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150169	SCV000197075	likely benign	not specified	2015-04-28	criteria provided, single submitter	clinical testing	p.Ala272Val in exon 9 of ATP6V1B1: This variant is not expected to have clinical significance because it has been identified in 0.2% (145/66720) of European chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs145735762).
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000150169	SCV000297104	uncertain significance	not specified	2015-08-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000263713	SCV000431636	uncertain significance	Renal tubular acidosis with progressive nerve deafness	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000487883	SCV000575212	uncertain significance	not provided	2021-01-01	criteria provided, single submitter	clinical testing
Counsyl	RCV000263713	SCV000795340	uncertain significance	Renal tubular acidosis with progressive nerve deafness	2017-11-03	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000487883	SCV000857799	uncertain significance	not provided	2017-11-08	criteria provided, single submitter	clinical testing
Invitae	RCV000487883	SCV001031946	likely benign	not provided	2024-01-28	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000487883	SCV001143092	benign	not provided	2019-07-17	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000263713	SCV001716394	uncertain significance	Renal tubular acidosis with progressive nerve deafness	2021-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000487883	SCV001791148	likely benign	not provided	2021-04-14	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24448499, 29310826)
PreventionGenetics, part of Exact Sciences	RCV003935260	SCV004749186	likely benign	ATP6V1B1-related condition	2022-04-15	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc.	RCV000263713	SCV001463237	uncertain significance	Renal tubular acidosis with progressive nerve deafness	2020-01-08	no assertion criteria provided	clinical testing