Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001011807 | SCV001172174 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-09-04 | criteria provided, single submitter | clinical testing | The p.I494N variant (also known as c.1481T>A), located in coding exon 11 of the POLD1 gene, results from a T to A substitution at nucleotide position 1481. The isoleucine at codon 494 is replaced by asparagine, an amino acid with dissimilar properties. This amino acid position is highly 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. |
Genome |
RCV001787122 | SCV002029150 | not provided | not provided | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 09-04-2019 by Lab or GTR ID 61756. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |