Total submissions: 3
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, |
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 |