ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1878dup (p.Asp627fs)

dbSNP: rs2102181621
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768696 SCV001992557 uncertain significance not provided 2019-04-29 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation as the last 49 amino acids are lost and replaced with 5 incorrect amino acids; Although other truncating variants in NEXN have been reported in HGMD in association with cardiomyopathy, the majority of the NEXN variants reported in HGMD are missense variants (Stenson et al., 2014)
Klaassen Lab, Charite University Medicine Berlin RCV001821979 SCV002072448 likely pathogenic Left ventricular noncompaction cardiomyopathy criteria provided, single submitter research

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