ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1374T>G (p.Asn458Lys) (rs782293740)

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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 RCV000611363 SCV000712000 uncertain significance not specified 2016-05-10 criteria provided, single submitter clinical testing The p.Asn458Lys variant in MYO7A has not been previously reported in individuals with hearing loss or Usher syndrome; however, a different variant at this amino acid position (p.Asn458Ile) has been previously reported in an individual with autosomal dominant hearing loss that segregated in 8 affected family members (Lu ijendijk 2004). Data from large population studies is insufficient to assess th e frequency of the p.Asn458Lys or the p.Asn458Ile variant. Computational predict ion tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Asn458 Lys variant is uncertain.

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