ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1276G>T (p.Ala426Ser) (rs200598389)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222204 SCV000273998 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-23 criteria provided, single submitter clinical testing The p.A426S variant (also known as c.1276G>T), located in coding exon 9 of the APC gene, results from a G to T substitution at nucleotide position 1276. The alanine at codon 426 is replaced by serine, an amino acid with similar properties. This alteration has been reported in a cohort of 488 patients with stages I to III breast cancer diagnosed over age 50 who were tested with a 25-gene panel test (Tung N et al. J. Clin. Oncol., 2016 May;34:1460-8). Based on sequence alignment, this amino acid position is highly conserved through reptiles. 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 RCV000462778 SCV000552753 likely benign Familial adenomatous polyposis 1 2020-12-03 criteria provided, single submitter clinical testing
Color Health, Inc RCV000222204 SCV000910937 likely benign Hereditary cancer-predisposing syndrome 2016-03-30 criteria provided, single submitter clinical testing

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