ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.587G>A (p.Arg196Gln)

gnomAD frequency: 0.00008  dbSNP: rs397517883
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041297 SCV000064988 likely benign not specified 2014-05-11 criteria provided, single submitter clinical testing Arg196Gln in exon 8 of USH1C: This variant is not expected to have clinical sign ificance because the arginine (Arg) at position 196 is not conserved in mammals or across evolutionarily distant species, and seven mammals have a glutamine (Gl n) at this position.
Invitae RCV001038980 SCV001202485 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 196 of the USH1C protein (p.Arg196Gln). This variant is present in population databases (rs397517883, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with USH1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 48020). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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