ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6629C>T (p.Ser2210Leu)

dbSNP: rs1561608893
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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 RCV000776338 SCV000911698 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000776338 SCV001187667 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-02 criteria provided, single submitter clinical testing The p.S2210L variant (also known as c.6629C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 6629. The serine at codon 2210 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003653310 SCV003459155 uncertain significance Familial adenomatous polyposis 1 2023-06-09 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. 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. ClinVar contains an entry for this variant (Variation ID: 630531). This variant has not been reported in the literature in individuals affected with APC-related conditions. This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 2210 of the APC protein (p.Ser2210Leu).

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