ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.564G>A (p.Leu188=)

gnomAD frequency: 0.00001  dbSNP: rs2038665417
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002255968 SCV002534687 likely benign Hereditary cancer-predisposing syndrome 2020-12-07 criteria provided, single submitter curation
Ambry Genetics RCV002255968 SCV002652341 likely benign Hereditary cancer-predisposing syndrome 2021-03-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003094250 SCV003480789 uncertain significance Colorectal cancer, susceptibility to, 10 2022-01-15 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 188 of the POLD1 protein (Silent). This variant has not been reported in the literature in individuals affected with POLD1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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