ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6475A>G (p.Asn2159Asp) (rs1555111106)

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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 RCV000611400 SCV000712813 uncertain significance not specified 2016-12-13 criteria provided, single submitter clinical testing The p.Asn2159Asp variant in MYO7A variant has not been previously reported in in dividuals with hearing loss or Usher syndrome. Data from large population studie s are insufficient to assess the frequency of this variant in the general popula tion. Computational prediction tools and conservation analyses suggest that thi s variant may impact the protein, though this information is not predictive enou gh to determine pathogenicity. In summary, the clinical significance of the p.As n2159Asp variant is uncertain.

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