Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001011246 | SCV001171545 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-11-21 | criteria provided, single submitter | clinical testing | The c.1374_1377delCATGinsTCCT variant, located in coding exon 10 of the POLD1 gene, results from an in-frame deletion of CATG and insertion of TCCT at nucleotide positions 1374 to 1377. This results in the substitution of the methionine residue for a proline residue at codon 459, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |