ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2911G>A (p.Glu971Lys)

gnomAD frequency: 0.00001  dbSNP: rs897259743
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689867 SCV000817536 uncertain significance Colorectal cancer, susceptibility to, 10 2024-12-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 971 of the POLD1 protein (p.Glu971Lys). 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: 569277). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt POLD1 protein function with a negative predictive value of 80%. 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.
GenomeConnect, ClinGen RCV003227828 SCV003925464 not provided not provided no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 06-08-2022 by Trillium Health Partners Credit Valley Hospital. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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