ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1682AAG[1] (p.Glu562del)

dbSNP: rs1228931205
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001327835 SCV001518927 uncertain significance Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 2020-10-05 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with NEXN-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.1685_1687del, results in the deletion of 1 amino acid(s) of the NEXN protein (p.Glu562del), but otherwise preserves the integrity of the reading frame.

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