ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7888G>C (p.Val2630Leu)

dbSNP: rs199688874
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774876 SCV000908895 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004561755 SCV001387014 uncertain significance Familial adenomatous polyposis 1 2019-07-08 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 2630 of the APC protein (p.Val2630Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 630010). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV000774876 SCV002675587 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-27 criteria provided, single submitter clinical testing The p.V2630L variant (also known as c.7888G>C), located in coding exon 15 of the APC gene, results from a G to C substitution at nucleotide position 7888. The valine at codon 2630 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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