ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.2362G>A (p.Ala788Thr) (rs896350761)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538764 SCV000653128 uncertain significance Colorectal cancer, susceptibility to, 12 2019-12-23 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 788 of the POLE protein (p.Ala788Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with POLE-related disease. ClinVar contains an entry for this variant (Variation ID: 473524). 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: "Tolerated"; 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 RCV000765067 SCV000896264 uncertain significance Colorectal cancer, susceptibility to, 12; Facial dysmorphism, immunodeficiency, livedo, and short stature 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000995017 SCV001148898 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing

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