ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.1023C>T (p.Ser341=)

gnomAD frequency: 0.00058  dbSNP: rs117826071
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000381418 SCV000431641 benign Renal tubular acidosis with progressive nerve deafness 2018-01-12 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000601412 SCV000711257 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Ser341Ser in Exon 10 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 5.0% (6/120) of c hromosomes from a population in the dbSNP database (http://www.ncbi.nlm.nih.gov/ projects/SNP; rs117826071)."
GeneDx RCV000841412 SCV000983377 benign not provided 2019-10-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27767102)
Labcorp Genetics (formerly Invitae), Labcorp RCV000841412 SCV001043460 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000381418 SCV002079720 likely benign Renal tubular acidosis with progressive nerve deafness 2019-12-10 no assertion criteria provided clinical testing

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