ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3587_3588CT[2] (p.Cys1198fs) (rs1555090368)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171464 SCV000221663 likely pathogenic not provided no assertion criteria provided research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222358 SCV000271420 pathogenic Rare genetic deafness 2015-05-28 criteria provided, single submitter clinical testing The p.Cys1198fs variant in MYO7A has not been previously reported in individuals with hearing loss or Usher syndrome or in large population studies, though the ability of these studies to accurately detect indels may be limited. This varia nt is predicted to cause a frameshift, which alters the protein?s amino acid seq uence beginning at position 1198 and leads to a premature termination codon 30 a mino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Truncating or loss of function variants in the MYO7A gene ar e an established disease mechanism for Usher syndrome. In summary, this variant meets our criteria to be classified as pathogenic for Usher syndrome in an auto somal recessive manner based on its predicted impact to the protein.

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