ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4735G>A (p.Glu1579Lys) (rs374766654)

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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 RCV000602682 SCV000711162 uncertain significance not specified 2017-12-21 criteria provided, single submitter clinical testing The p.Glu1579Lys variant in MYO7A has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 8/ 126284 of E uropean chromosomes and 5/ 34374 of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs374766654). Althoug h this variant has been seen in the general population, its frequency is not hig h enough to rule out a pathogenic role. Computational prediction tools and conse rvation analyses do not provide strong support for or against an impact to the p rotein. In summary, the clinical significance of the p.Glu1579Lys variant is un certain. ACMG/AMP Criteria applied: None.

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