ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6231dup (p.Lys2078fs) (rs730880367)

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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 RCV000156543 SCV000206262 pathogenic Rare genetic deafness 2014-07-22 criteria provided, single submitter clinical testing The p.Lys2078fs variant in MYO7A has been previously reported in one individual with hearing loss. It has not been identified in large population studies. This variant is predicted to cause a frameshift, which alters the protein?s amino aci d sequence beginning at position 2078 and lead to a premature termination codon 50 amino acids downstream. This alteration is then predicted to lead to a trunca ted or absent protein. Truncating or loss of function variants in the MYO7A gen e are an established disease mechanism for Usher syndrome. In summary, this var iant meets our criteria to be classified as pathogenic for Usher syndrome in an autosomal recessive manner (http://personalizedmedicine.partners.org/Laboratory- For-Molecular-Medicine/).

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