ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.349T>G (p.Ser117Ala)

dbSNP: rs2043134882
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003656236 SCV001208091 uncertain significance not provided 2019-01-28 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 POLE-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with alanine at codon 117 of the POLE protein (p.Ser117Ala). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and alanine.
GenomeConnect - Invitae Patient Insights Network RCV003483762 SCV004228868 not provided Familial colorectal cancer; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 01-30-2019 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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