ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4117C>G (p.Pro1373Ala)

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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 RCV003845167 SCV004649810 uncertain significance Familial adenomatous polyposis 1 2023-08-11 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 alanine, which is neutral and non-polar, at codon 1373 of the APC protein (p.Pro1373Ala). 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.
Ambry Genetics RCV004943256 SCV005461541 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-01 criteria provided, single submitter clinical testing The c.4117C>G (p.P1373A) alteration is located in exon 16 (coding exon 15) of the APC gene. This alteration results from a C to G substitution at nucleotide position 4117, causing the proline (P) at amino acid position 1373 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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