ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2351G>A (p.Gly784Asp)

gnomAD frequency: 0.00001  dbSNP: rs749227042
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692585 SCV000820415 uncertain significance Colorectal cancer, susceptibility to, 10 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 784 of the POLD1 protein (p.Gly784Asp). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs749227042, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with POLD1-related conditions. 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. 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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