ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) (rs876657655)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675133 SCV000800711 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2018-05-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000223094 SCV000271250 likely pathogenic Rare genetic deafness 2015-11-05 criteria provided, single submitter clinical testing The p.Lys2021Arg variant in MYO7A has been reported in one individual with type I Usher syndrome who was compound heterozygous for a second likely pathogenic va riant in MYO7A (Roux 2011). This variant was absent from large population studie s. Computational prediction tools and conservation analyses suggest that the p.L ys2021Arg variant may impact the protein. In summary, although additional studie s are required to fully establish its clinical significance, this variant is lik ely pathogenic based on the previous report in an individual with Usher syndrome .

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