ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4126T>C (p.Tyr1376His)

dbSNP: rs1765609325
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002240346 SCV001221964 uncertain significance Familial adenomatous polyposis 1 2019-12-27 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals with APC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with histidine at codon 1376 of the APC protein (p.Tyr1376His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine.
Sema4, Sema4 RCV002255614 SCV002531849 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-06 criteria provided, single submitter curation

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