ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.496del (p.Glu166fs) (rs111033448)

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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 RCV000036171 SCV000059823 pathogenic Rare genetic deafness 2010-07-07 criteria provided, single submitter clinical testing The Glu166fs variant has been identified in a homozygous state in 3 consanguineo us Pakistani families with the clinical features of Usher syndrome type 1 (Riazu ddin 2008). This variant is predicted to cause a frameshift, which alters the pr otein's amino acid sequence beginning at codon 166 and leads to a premature stop codon 4 codons downstream. This alteration is then predicted to lead to a trunc ated or absent protein. In summary, this variant meets our criteria to be classi fied as pathogenic.

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