ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2492T>C (p.Leu831Ser)

dbSNP: rs878853427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003650518 SCV000282718 likely benign Familial adenomatous polyposis 1 2023-06-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429085 SCV002741823 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-14 criteria provided, single submitter clinical testing The p.L831S variant (also known as c.2492T>C), located in coding exon 15 of the APC gene, results from a T to C substitution at nucleotide position 2492. The leucine at codon 831 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. 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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