ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2914G>A (p.Gly972Ser)

gnomAD frequency: 0.00001  dbSNP: rs750556498
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003534575 SCV000816429 uncertain significance Familial adenomatous polyposis 1 2023-10-29 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 972 of the APC protein (p.Gly972Ser). This variant is present in population databases (rs750556498, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 568446). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on APC protein function. 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 RCV003303117 SCV004001081 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-09 criteria provided, single submitter clinical testing The p.G972S variant (also known as c.2914G>A), located in coding exon 15 of the APC gene, results from a G to A substitution at nucleotide position 2914. The glycine at codon 972 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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