ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.238C>G (p.Arg80Gly) (rs774005703)

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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, Partners HealthCare Personalized Medicine RCV000613861 SCV000713269 uncertain significance not specified 2017-06-18 criteria provided, single submitter clinical testing The p.Arg80Gly variant in USH1C has not been previously reported in individuals with hearing loss, but has been identified in 5/33447 Latino chromosomes and 2/5 466 chromosomes of unspecified ethnicity by the Genome Aggregation Database (gno mAD, http://gnomad.broadinstitute.org; dbSNP rs774005703). Although this variant has been seen in the general population, its frequency is not high enough to ru le out a pathogenic role. Computational prediction tools and conservation analys is do not provide strong support for or against an impact to the protein. In sum mary, the clinical significance of the p.Arg80Gly variant is uncertain.
Invitae RCV001346255 SCV001540439 uncertain significance not provided 2020-07-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 80 of the USH1C protein (p.Arg80Gly). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with USH1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 505835). 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: Benign; Align-GVGD: Class C1). 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. 5

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