ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.2024G>A (p.Arg675Lys)

dbSNP: rs1839060822
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002045654 SCV002306229 uncertain significance Primary dilated cardiomyopathy 2020-12-27 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with NEBL-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with lysine at codon 675 of the NEBL protein (p.Arg675Lys). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and lysine.

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