ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.907C>T (p.Arg303Trp)

gnomAD frequency: 0.00001  dbSNP: rs749821587
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038731 SCV001202218 uncertain significance not provided 2022-06-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 303 of the USH1C protein (p.Arg303Trp). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 837407). 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.
Ambry Genetics RCV002553045 SCV003713051 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.907C>T (p.R303W) alteration is located in exon 12 (coding exon 12) of the USH1C gene. This alteration results from a C to T substitution at nucleotide position 907, causing the arginine (R) at amino acid position 303 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001832391 SCV002084645 uncertain significance Usher syndrome type 1C 2020-03-20 no assertion criteria provided clinical testing

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