Submissions for variant NM_001692.4(ATP6V1B1):c.591C>T (p.Ala197=)

gnomAD frequency: 0.00019  dbSNP: rs199914263

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000218012	SCV000269992	likely benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Ala197Ala in Exon 07 of ATP6V1B1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 1/7018 European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
Counsyl	RCV000674285	SCV000799595	likely benign	Renal tubular acidosis with progressive nerve deafness	2018-04-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000894887	SCV001038901	likely benign	not provided	2024-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000894887	SCV001782119	likely benign	not provided	2020-06-09	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000674285	SCV002805539	likely benign	Renal tubular acidosis with progressive nerve deafness	2021-09-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937816	SCV004751779	likely benign	ATP6V1B1-related disorder	2019-06-02	no assertion criteria provided	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).