ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=)

gnomAD frequency: 0.00779  dbSNP: rs144845223
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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 RCV000150167 SCV000197073 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Asn48Asn in Exon 02 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 2.5% (95/3738) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs144845223).
GeneDx RCV000710661 SCV000726566 benign not provided 2019-05-31 criteria provided, single submitter clinical testing
Counsyl RCV000665922 SCV000790128 likely benign Renal tubular acidosis with progressive nerve deafness 2017-03-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710661 SCV000840911 benign not provided 2018-08-10 criteria provided, single submitter clinical testing
Invitae RCV000710661 SCV001032292 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000665922 SCV001297162 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.

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