ClinVar Miner

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

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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 2020-10-02 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 288 of the USH1C protein (p.Ile288Met). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is present in population databases (rs754717329, ExAC 0.009%). This variant has not been reported in the literature in individuals with USH1C-related conditions. 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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