ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2507A>G (p.Asn836Ser)

dbSNP: rs1555792872
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548201 SCV000646567 uncertain significance Colorectal cancer, susceptibility to, 10 2023-08-19 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 836 of the POLD1 protein (p.Asn836Ser). This variant is not present in population databases (gnomAD no frequency). 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: 469267). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt POLD1 protein function. 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.
Ambry Genetics RCV002431649 SCV002742368 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-23 criteria provided, single submitter clinical testing The p.N836S variant (also known as c.2507A>G), located in coding exon 19 of the POLD1 gene, results from an A to G substitution at nucleotide position 2507. The asparagine at codon 836 is replaced by serine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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