ClinVar Miner

Submissions for variant NM_000038.6(APC):c.391A>G (p.Thr131Ala)

dbSNP: rs1580329587
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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 RCV001021432 SCV001183049 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-10 criteria provided, single submitter clinical testing The p.T131A variant (also known as c.391A>G), located in coding exon 3 of the APC gene, results from an A to G substitution at nucleotide position 391. The threonine at codon 131 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003473591 SCV004202232 uncertain significance Familial adenomatous polyposis 1 2023-07-03 criteria provided, single submitter clinical testing
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences RCV001574073 SCV001797298 uncertain significance Breast carcinoma 2021-08-20 no assertion criteria provided clinical testing Invasive Ductal Carcinoma Estrogen Receptor: Positive Progesterone Receptor: Positive HER2 Receptor: Positive

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