ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.27T>C (p.Pro9=)

gnomAD frequency: 0.11527  dbSNP: rs17853498
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Total submissions: 8
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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 RCV000037206 SCV000060863 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Pro9Pro in Exon 01 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 15.4% (577/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs17853498)."
Illumina Laboratory Services, Illumina RCV000404834 SCV000431627 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 RCV000037206 SCV000732288 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 RCV001522716 SCV001732309 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000404834 SCV001761690 benign Renal tubular acidosis with progressive nerve deafness 2021-07-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV000404834 SCV001452516 benign Renal tubular acidosis with progressive nerve deafness 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000037206 SCV001929613 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037206 SCV001957920 benign not specified no assertion criteria provided clinical testing

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