ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.1415C>G (p.Ala472Gly) (rs539665448)

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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,Partners HealthCare Personalized Medicine RCV000222980 SCV000272210 uncertain significance not specified 2015-04-01 criteria provided, single submitter clinical testing The p.Ala472Gly variant in NEXN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/11546 of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Comput ational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Ala472Gly variant is uncertain.
Invitae RCV000466479 SCV000549239 uncertain significance Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2018-11-21 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 472 of the NEXN protein (p.Ala472Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine. This variant is present in population databases (rs539665448, ExAC 0.02%). This variant has been observed in an individual affected with left ventricular noncompaction (PMID: 28798025). ClinVar contains an entry for this variant (Variation ID: 229054). 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: "Possibly 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.

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