ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.143A>C (p.His48Pro)

dbSNP: rs1555789124
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000524966 SCV000646485 uncertain significance Colorectal cancer, susceptibility to, 10 2017-06-07 criteria provided, single submitter clinical testing In summary, this variant has uncertain impact on POLD1 function. The available evidence is currently insufficient to determine its role 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 a POLD1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with proline at codon 48 of the POLD1 protein (p.His48Pro). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and proline.

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