ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His) (rs368705036)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667036 SCV000791425 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2017-05-16 criteria provided, single submitter clinical testing
Invitae RCV001240019 SCV001412939 uncertain significance not provided 2019-12-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 1230 of the MYO7A protein (p.Arg1230His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs368705036, ExAC 0.1%). This variant has been observed in individual(s) with non-syndromic hearing loss (PMID: 27068579). ClinVar contains an entry for this variant (Variation ID: 551875). 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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