ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2788G>T (p.Ala930Ser)

dbSNP: rs144111108
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813768 SCV000954140 uncertain significance Colorectal cancer, susceptibility to, 10 2018-12-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with POLD1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces alanine with serine at codon 930 of the POLD1 protein (p.Ala930Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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