ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) (rs397516321)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036196 SCV000059848 pathogenic Rare genetic deafness 2011-03-09 criteria provided, single submitter clinical testing The Arg1873Trp variant in MYO7A has been reported in five probands with Usher sy ndrome type 1 and has not been identified in 1176 control chromosomes (Roux 2006 , Baux 2008-unpublished data). All of these probands were homozygous or compound heterozygous. In summary, this variant meets our criteria to be classified as p athogenic.
Counsyl RCV000668897 SCV000793571 likely pathogenic Deafness, autosomal recessive 2; Usher syndrome type 1 2017-08-18 criteria provided, single submitter clinical testing
Invitae RCV001069199 SCV001234352 pathogenic not provided 2019-12-29 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1873 of the MYO7A protein (p.Arg1873Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs397516321, ExAC 0.006%). This variant has been observed to be homozygous or in combination with another MYO7A variant in individuals affected with Usher syndrome (PMID: 16679490, 29142287, 25558175, 27460420), and has been shown to segregate with autosomal recessive non-syndromic hearing loss in a family (PMID: 28472130). ClinVar contains an entry for this variant (Variation ID: 43291). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.

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