Submissions for variant NM_001692.4(ATP6V1B1):c.1002C>T (p.Arg334=)

gnomAD frequency: 0.37260  dbSNP: rs2072462

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037201	SCV000060858	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	"Arg334Arg in Exon 10 of ATP6V1B1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 44.6% (3132/7020) of European American chromosomes from a broad population by the NHLBI Exome Seq uencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2072462)."
PreventionGenetics, part of Exact Sciences	RCV000037201	SCV000308004	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000324556	SCV000431640	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.
GeneDx	RCV000037201	SCV000713915	benign	not specified	2017-05-09	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.
Invitae	RCV001523719	SCV001733487	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000324556	SCV001761697	benign	Renal tubular acidosis with progressive nerve deafness	2021-07-10	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000324556	SCV001452522	benign	Renal tubular acidosis with progressive nerve deafness	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000037201	SCV001739532	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037201	SCV001953279	benign	not specified		no assertion criteria provided	clinical testing