Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000534127 | SCV000646672 | uncertain significance | Colorectal cancer, susceptibility to, 10 | 2021-03-07 | criteria provided, single submitter | clinical testing | This sequence change deletes 24 nucleotides from exon 5 of the POLD1 mRNA (c.501_524del). This leads to the deletion of 8 amino acid residues in the POLD1 protein (p.Glu167_Arg174del) but otherwise preserves the integrity of the reading frame. In summary, this variant is a novel in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a POLD1-related disease. |