ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.218C>T (p.Ser73Leu)

dbSNP: rs1601190393
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791682 SCV000930942 uncertain significance Colorectal cancer, susceptibility to, 10 2018-09-03 criteria provided, single submitter clinical testing 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 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. 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). This sequence change replaces serine with leucine at codon 73 of the POLD1 protein (p.Ser73Leu). The serine residue is weakly conserved and there is a large physicochemical difference between serine and leucine.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238215 SCV002010603 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing

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