Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001022618 | SCV001184376 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-07-19 | criteria provided, single submitter | clinical testing | The p.V1506A variant (also known as c.4517T>C), located in coding exon 29 of the ATM gene, results from a T to C substitution at nucleotide position 4517. The valine at codon 1506 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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. |
Baylor Genetics | RCV003467667 | SCV004209423 | uncertain significance | Familial cancer of breast | 2023-09-20 | criteria provided, single submitter | clinical testing |