ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.1225C>G (p.Arg409Gly)

dbSNP: rs778135510
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820526 SCV000961242 uncertain significance Colorectal cancer, susceptibility to, 10 2021-12-05 criteria provided, single submitter clinical testing 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 662791). 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 replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 409 of the POLD1 protein (p.Arg409Gly).
Ambry Genetics RCV001010423 SCV001170622 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-21 criteria provided, single submitter clinical testing The p.R409G variant (also known as c.1225C>G), located in coding exon 9 of the POLD1 gene, results from a C to G substitution at nucleotide position 1225. The arginine at codon 409 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV000820526 SCV004203475 uncertain significance Colorectal cancer, susceptibility to, 10 2023-08-30 criteria provided, single submitter clinical testing

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