ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2563C>A (p.Arg855=)

dbSNP: rs768048535
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563617 SCV000671023 likely benign Hereditary cancer-predisposing syndrome 2015-06-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001858333 SCV002260724 uncertain significance Colorectal cancer, susceptibility to, 10 2022-03-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with POLD1-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 484342). This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 855 of the POLD1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the POLD1 protein. It affects a nucleotide within the consensus splice site.

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