ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.1453G>A (p.Glu485Lys) (rs368812830)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041161 SCV000064852 uncertain significance not specified 2014-02-13 criteria provided, single submitter clinical testing The Glu485Lys variant in NEXN has not been reported in the literature but has be en observed in our laboratory in 2 individuals with cardiomyopathy, one with HCM and a second pathogenic variant in MYBPC3 and this individual. This variant h as also been observed in 2/6536 European American chromosomes in a broad and not well clinically characterized population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Gl u485Lys variant may impact the protein, though this information is not predictiv e enough to determine pathogenicity. In summary, additional data is needed to f ully assess the clinical significance of the Glu485Lys variant.

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