ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=)

gnomAD frequency: 0.00080  dbSNP: rs147576439
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037205 SCV000060862 likely benign not specified 2015-09-03 criteria provided, single submitter clinical testing p.Ala88Ala in exon 3 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 0.2% (123/64670) E uropean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs147576439).
Illumina Laboratory Services, Illumina RCV000260310 SCV000431633 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.
GeneDx RCV000888129 SCV000724380 likely benign not provided 2020-07-24 criteria provided, single submitter clinical testing
Invitae RCV000888129 SCV001031743 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000888129 SCV004011174 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing ATP6V1B1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003904914 SCV004718759 likely benign ATP6V1B1-related condition 2021-12-23 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. RCV000260310 SCV001459117 likely benign Renal tubular acidosis with progressive nerve deafness 2019-12-17 no assertion criteria provided clinical testing

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