ClinVar Miner

Submissions for variant NM_005379.4(MYO1A):c.2684T>C (p.Met895Thr)

gnomAD frequency: 0.00016  dbSNP: rs148582008
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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, Mass General Brigham Personalized Medicine RCV000215917 SCV000270524 likely benign not specified 2015-02-02 criteria provided, single submitter clinical testing p.Met895Thr in exon 25 of MYO1A: This variant is not expected to have clinical s ignificance to hearing loss because recent evidence has disqualified an associat ion between variants in the MYO1A gene and hearing loss (Eisenberger 2014). In addition, this variant has been identified in 18/67688 European chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1 48582008), and the methionine (Met) at position 895 is not conserved in mammals or in evolutionarily distant species.
Eurofins Ntd Llc (ga) RCV000726744 SCV000702684 uncertain significance not provided 2016-10-28 criteria provided, single submitter clinical testing

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