ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7411C>T (p.Pro2471Ser)

dbSNP: rs1324082067
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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 RCV004564383 SCV000828316 uncertain significance Familial adenomatous polyposis 1 2022-06-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2471 of the APC protein (p.Pro2471Ser). ClinVar contains an entry for this variant (Variation ID: 576961). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated.
PreventionGenetics, part of Exact Sciences RCV003403625 SCV004119675 uncertain significance APC-related disorder 2022-11-10 criteria provided, single submitter clinical testing The APC c.7411C>T variant is predicted to result in the amino acid substitution p.Pro2471Ser. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. In ClinVar, this variant has been interpreted as uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/576961/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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