ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.1382C>T (p.Pro461Leu) (rs371863168)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000223269 SCV000271509 uncertain significance not specified 2015-03-05 criteria provided, single submitter clinical testing The p.Pro461Leu variant in ATP6V1B1 has not been previously reported in individu als with hearing loss. This variant has been identified in 16/66302 of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu; dbSNP rs371863168). Computational prediction tools and conservation anal yses suggest that the p.Pro461Leu variant may not impact the protein, though thi s information is not predictive enough to rule out pathogenicity. In summary, th e clinical significance of the p.Pro461Leu variant is uncertain.
Illumina Clinical Services Laboratory,Illumina RCV000334671 SCV000431649 uncertain significance 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, 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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