ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4702G>C (p.Asp1568His)

dbSNP: rs1554086115
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003767031 SCV000647532 uncertain significance Familial adenomatous polyposis 1 2017-01-15 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with histidine at codon 1568 of the APC protein (p.Asp1568His). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and histidine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a APC-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV003392396 SCV004121539 uncertain significance APC-related condition 2022-10-04 criteria provided, single submitter clinical testing The APC c.4702G>C variant is predicted to result in the amino acid substitution p.Asp1568His. 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. This variant has been documented as uncertain in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/469976/). 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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