ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2656_2657delinsTT (p.Glu886Leu)

dbSNP: rs1568637923
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000686064 SCV000813567 uncertain significance Colorectal cancer, susceptibility to, 10 2018-03-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with leucine at codon 886 of the POLD1 protein (p.Glu886Leu). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with POLD1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV005021051 SCV005650315 uncertain significance Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progeroid syndrome; Immunodeficiency 120 2024-03-08 criteria provided, single submitter clinical testing

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