Submissions for variant NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=)

gnomAD frequency: 0.00779  dbSNP: rs144845223

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150167	SCV000197073	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Asn48Asn in Exon 02 of ATP6V1B1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 2.5% (95/3738) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs144845223).
GeneDx	RCV000710661	SCV000726566	benign	not provided	2019-05-31	criteria provided, single submitter	clinical testing
Counsyl	RCV000665922	SCV000790128	likely benign	Renal tubular acidosis with progressive nerve deafness	2017-03-06	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000710661	SCV000840911	benign	not provided	2018-08-10	criteria provided, single submitter	clinical testing
Invitae	RCV000710661	SCV001032292	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000665922	SCV001297162	benign	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 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.
PreventionGenetics, part of Exact Sciences	RCV003907416	SCV004719156	benign	ATP6V1B1-related condition	2019-08-07	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).