ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.327G>C (p.Gln109His)

gnomAD frequency: 0.00001  dbSNP: rs750260438
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000457445 SCV000547589 uncertain significance Colorectal cancer, susceptibility to, 10 2024-09-30 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 109 of the POLD1 protein (p.Gln109His). This variant is present in population databases (rs750260438, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with POLD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 408038). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
GeneDx RCV000481462 SCV000571639 uncertain significance not provided 2024-02-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mendelics RCV000457445 SCV001141130 uncertain significance Colorectal cancer, susceptibility to, 10 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000664284 SCV003909094 likely benign Hereditary cancer-predisposing syndrome 2024-03-13 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.
True Health Diagnostics RCV000664284 SCV000788145 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-08 no assertion criteria provided clinical testing

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