ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.688-7T>C

gnomAD frequency: 0.00070  dbSNP: rs193240706
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Total submissions: 4
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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 RCV000150170 SCV000197076 likely benign not specified 2015-10-22 criteria provided, single submitter clinical testing c.688-7T>C in intron 5 of ATP6V1B1: This variant is not expected to have clinica l significance because it does not diverge from the splice consensus sequence an d computational tools do not predict an impact to splicing. It has been identifi ed in 0.2% (24/10404) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs193240706).
GeneDx RCV000840683 SCV000982612 likely benign not provided 2021-01-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000840683 SCV001076641 benign not provided 2024-11-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001139489 SCV001299653 uncertain significance 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, 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.

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