Submissions for variant NM_001692.4(ATP6V1B1):c.40G>A (p.Gly14Ser)

gnomAD frequency: 0.00020  dbSNP: rs111306070

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000939451	SCV001085295	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001137237	SCV001297159	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV001195295	SCV001365612	benign	not specified	2019-09-25	criteria provided, single submitter	clinical testing	The p.Gly14Ser variant in ATP6V1B1 is classified as benign because it has been identified in 0.69% (138/19944) of East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
GeneDx	RCV000939451	SCV001804769	likely benign	not provided	2019-12-17	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001137237	SCV001459114	uncertain significance	Renal tubular acidosis with progressive nerve deafness	2019-12-24	no assertion criteria provided	clinical testing