ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) (rs145735762)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150169 SCV000197075 likely benign not specified 2015-04-28 criteria provided, single submitter clinical testing p.Ala272Val in exon 9 of ATP6V1B1: This variant is not expected to have clinical significance because it has been identified in 0.2% (145/66720) of European chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs145735762).
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000150169 SCV000297104 uncertain significance not specified 2015-08-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263713 SCV000431636 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487883 SCV000575212 uncertain significance not provided 2021-01-01 criteria provided, single submitter clinical testing
Counsyl RCV000263713 SCV000795340 uncertain significance Renal tubular acidosis with progressive nerve deafness 2017-11-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000487883 SCV000857799 uncertain significance not provided 2017-11-08 criteria provided, single submitter clinical testing
Invitae RCV000487883 SCV001031946 likely benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000487883 SCV001143092 benign not provided 2019-07-17 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000263713 SCV001716394 uncertain significance Renal tubular acidosis with progressive nerve deafness 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000487883 SCV001791148 likely benign not provided 2021-04-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24448499, 29310826)
Natera, Inc. RCV000263713 SCV001463237 uncertain significance Renal tubular acidosis with progressive nerve deafness 2020-01-08 no assertion criteria provided clinical testing

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