ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1919G>A (p.Arg640Gln)

gnomAD frequency: 0.00001  dbSNP: rs1273594465
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003743781 SCV000647204 uncertain significance Familial adenomatous polyposis 1 2022-11-14 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: 469721). This variant has not been reported in the literature in individuals affected with APC-related conditions. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 640 of the APC protein (p.Arg640Gln).
Color Diagnostics, LLC DBA Color Health RCV000579934 SCV000681495 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-18 criteria provided, single submitter clinical testing

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