ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.2588C>G (p.Ser863Cys)

gnomAD frequency: 0.00001  dbSNP: rs150152361
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214544 SCV000272202 uncertain significance not specified 2015-05-18 criteria provided, single submitter clinical testing The p.Ser863Cys variant in NEBL has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/10326 African chromosomes and 2/66490 European chromosomes by the Exome Aggregation Consortium (ExAC, http://e xac.broadinstitute.org; dbSNP rs150152361). Computational prediction tools and c onservation analysis suggest that this variant may impact the protein, though th is information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Ser863Cys variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000822758 SCV000963574 uncertain significance Primary dilated cardiomyopathy 2019-06-20 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with NEBL-related disease. ClinVar contains an entry for this variant (Variation ID: 229046). This variant is present in population databases (rs150152361, ExAC 0.01%). This sequence change replaces serine with cysteine at codon 863 of the NEBL protein (p.Ser863Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine.

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