ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.266G>A (p.Arg89His) (rs749647539)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669302 SCV000794044 uncertain significance Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-11-14 criteria provided, single submitter clinical testing
Invitae RCV001071473 SCV001236779 uncertain significance not provided 2019-11-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 89 of the USH1C protein (p.Arg89His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs749647539, ExAC 0.006%). This variant has been observed in individual(s) with USH1C-related conditions (PMID: 24416283). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 553785). 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"). 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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