Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001022277 | SCV001183992 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-08-13 | criteria provided, single submitter | clinical testing | The p.I1438S variant (also known as c.4313T>G), located in coding exon 28 of the ATM gene, results from a T to G substitution at nucleotide position 4313. The isoleucine at codon 1438 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is well 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. |
Cancer Genomics Group, |
RCV001030529 | SCV001193477 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2019-05-01 | criteria provided, single submitter | research |