ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1984A>T (p.Met662Leu) (rs782485961)

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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 RCV000615722 SCV000731812 uncertain significance not specified 2017-08-30 criteria provided, single submitter clinical testing The p.Met662Leu variant in MYO7A has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in 1/18710 East As ian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadi nstitute.org/; dbSNP rs782485961). Although this variant has been seen in the ge neral population, its frequency is not high enough to rule out a pathogenic role . Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical signi ficance of this variant is uncertain.

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