ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5845_5855del (p.Ile1949fs) (rs876657713)

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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 RCV000220428 SCV000271422 pathogenic Rare genetic deafness 2015-05-05 criteria provided, single submitter clinical testing The p.Ile1949fs variant in MYO7A has not been previously reported in individuals with hearing loss or Usher syndrome. It has not been identified in large popul ation studies, though the ability of these studies to accurately detect indels m ay be limited. This variant is predicted to cause a frameshift, which alters th e protein?s amino acid sequence beginning at position 1949 and leads to a premat ure termination codon 6 amino acids downstream. This alteration is then predicte d to lead to a truncated or absent protein. Loss of function of the MYO7A gene is an established disease mechanism in autosomal recessive Usher syndrome. In s ummary, this variant meets our criteria to be classified as pathogenic for autos omal recessive Usher syndrome (www.partners.org/personalizedmedicine/lmm), based on the predicted impact to the protein.

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