ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.1700G>T (p.Gly567Val)

dbSNP: rs1601220977
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817503 SCV000958067 uncertain significance Colorectal cancer, susceptibility to, 10 2018-07-05 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 567 of the POLD1 protein (p.Gly567Val). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and valine. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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: "Benign"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with POLD1-related disease. This variant is not present in population databases (ExAC no frequency).

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