ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4555del (p.Val1519fs) (rs876657712)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000216749 SCV000271421 pathogenic Rare genetic deafness 2015-11-09 criteria provided, single submitter clinical testing The p.Val1519fs variant in MYO7A has not been previously reported in individuals with hearing loss or Usher syndrome and was absent from large population studie s. This variant is predicted to cause a frameshift, which alters the protein?s a mino acid sequence beginning at position 1519 and leads to a premature terminati on codon 30 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the MYO7A gene is an establi shed disease mechanism in autosomal recessive Usher syndrome. In summary, this v ariant meets our criteria to be classified as pathogenic.

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