ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1981G>A (p.Gly661Arg) (rs876657929)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000222628 SCV000272213 uncertain significance not specified 2015-04-10 criteria provided, single submitter clinical testing The p.Gly661Arg variant in NEXN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis suggest that this variant may impact the protein, t hough this information is not predictive enough to determine pathogenicity. In s ummary, the clinical significance of the p.Gly661Arg variant is uncertain.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768811 SCV000900184 uncertain significance Cardiomyopathy 2016-11-24 criteria provided, single submitter clinical testing
Invitae RCV001359679 SCV001555557 uncertain significance Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2020-07-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 661 of the NEXN protein (p.Gly661Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NEXN-related conditions. ClinVar contains an entry for this variant (Variation ID: 229056). 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 C1). 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. 5

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