ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2848G>A (p.Val950Ile) (rs199613764)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000213753 SCV000270638 likely benign not specified 2017-02-28 criteria provided, single submitter clinical testing p.Val950Ile in exon 23 of OTOF: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, over 10 mammals have an isoleucine (Ile) at this position despite high near by amino acid conservation. In addition, computational prediction tools do not s uggest a high likelihood of impact to the protein. This variant has been identi fied in 19/62470 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs199613764).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725146 SCV000334448 uncertain significance not provided 2015-09-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001141751 SCV001302116 uncertain significance Deafness, autosomal recessive 9 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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