ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2270G>A (p.Arg757His)

gnomAD frequency: 0.00001  dbSNP: rs753703742
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002480925 SCV002789818 uncertain significance Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A; Usher syndrome type 1 2022-04-18 criteria provided, single submitter clinical testing
Invitae RCV002537892 SCV003458396 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 457 of the USH1C protein (p.Arg457His). This variant is present in population databases (rs753703742, gnomAD 0.05%). 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: 992075). 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.
GeneDx RCV002537892 SCV004170520 uncertain significance not provided 2023-10-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001280391 SCV001467569 uncertain significance Usher syndrome type 1C 2020-04-11 no assertion criteria provided clinical testing

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