ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel RCV001171527 SCV001334312 likely pathogenic Usher syndrome 2020-03-18 reviewed by expert panel curation The c.6062A>G (p.Lys2021Arg) variant in MYO7A was observed in at least 2 probands with Usher syndrome and a second pathogenic or likely pathogenic variant observed in the gene (PM3; PMID: 21436283; LMM internal data, SCV000271250.2). At least one of these individuals presented with hearing loss and retinitis pigmentosa, features highly specific for Usher syndrome (PP4). This variant was absent from large population databases (PM2; gnomad.broadinstitute.org). The REVEL computational prediction analysis tool produced a score of 0.75, which is above the threshold necessary to apply PP3. In summary, this variant meets criteria to be classified as likely pathogenic for autosomal recessive Usher syndrome. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: PM2, PM3, PP3, PP4.
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 .
Counsyl RCV000675133 SCV000800711 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2018-05-18 criteria provided, single submitter clinical testing

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