ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2852A>T (p.Tyr951Phe)

dbSNP: rs756210930
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002563117 SCV001399977 uncertain significance Familial adenomatous polyposis 1 2024-04-25 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 951 of the APC protein (p.Tyr951Phe). This variant is present in population databases (rs756210930, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 955046). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt APC protein function with a negative predictive value of 95%. 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.
Baylor Genetics RCV002563117 SCV004198879 uncertain significance Familial adenomatous polyposis 1 2023-10-12 criteria provided, single submitter clinical testing

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