ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.864T>G (p.Ile288Met)

gnomAD frequency: 0.00004  dbSNP: rs754717329
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001316883 SCV001507523 uncertain significance not provided 2022-06-15 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 288 of the USH1C protein (p.Ile288Met). 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: 992080). 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.
Natera, Inc. RCV001280396 SCV001467574 uncertain significance Usher syndrome type 1C 2020-04-11 no assertion criteria provided clinical testing

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