ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5243C>T (p.Thr1748Met) (rs752373714)

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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 RCV000612824 SCV000712358 uncertain significance not specified 2016-08-04 criteria provided, single submitter clinical testing The p.Thr1748Met variant in MYO7A has not been previously reported in individual s with hearing loss or Usher syndrome. This variant has been identified in 1/789 6 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac; dbSNP rs752373714); however, this frequency in the general population is not high enough to rule out a pathogenic role. Computational predi ction tools and conservation analyses do not provide strong support for or again st an impact to the protein. In summary, the clinical significance of the p.Thr 1748Met variant is uncertain.

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