ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.793C>A (p.Gln265Lys)

dbSNP: rs761106568
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001304527 SCV001493812 uncertain significance Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 2020-07-13 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 265 of the NEXN protein (p.Gln265Lys). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and lysine. This variant is present in population databases (rs761106568, ExAC 0.002%). This variant has not been reported in the literature in individuals with NEXN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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