ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) (rs554073390)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668846 SCV000793518 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2017-08-23 criteria provided, single submitter clinical testing
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University RCV000790513 SCV000929843 uncertain significance Deafness, autosomal dominant 11 criteria provided, single submitter research
Invitae RCV001242948 SCV001416074 uncertain significance not provided 2019-11-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1168 of the MYO7A protein (p.Arg1168Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs554073390, ExAC 0.02%). This variant has been observed in individual(s) with clinical features of Usher syndrome (PMID: 20052763, 21436283). ClinVar contains an entry for this variant (Variation ID: 553405). 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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