Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000459572 | SCV000547518 | uncertain significance | Colorectal cancer, susceptibility to, 10 | 2023-03-04 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 407973). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 25 and introduces a new termination codon (Invitae). However the mRNA is not expected to undergo nonsense-mediated decay. This variant has not been reported in the literature in individuals affected with POLD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 25 of the POLD1 gene. It does not directly change the encoded amino acid sequence of the POLD1 protein. RNA analysis indicates that this variant induces altered splicing and likely disrupts the C-terminus of the protein. |
Gene |
RCV003320648 | SCV000569002 | likely benign | not provided | 2023-08-07 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |