ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.654C>T (p.Asp218=)

gnomAD frequency: 0.02971  dbSNP: rs116139984
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Total submissions: 6
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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 RCV000037209 SCV000060866 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Asp218Asp 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 wi thin the splice consensus sequence, and has been identified in 9.1% (339/3736) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs116139984)."
Illumina Laboratory Services, Illumina RCV000356213 SCV000431635 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 RCV000037209 SCV000718110 benign not specified 2018-01-11 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.
Counsyl RCV000356213 SCV000790099 benign Renal tubular acidosis with progressive nerve deafness 2017-03-06 criteria provided, single submitter clinical testing
Invitae RCV001511575 SCV001718849 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000356213 SCV001452520 benign Renal tubular acidosis with progressive nerve deafness 2020-09-16 no assertion criteria provided clinical testing

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