ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.2026_*1del (rs794729094)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183688 SCV000236157 uncertain significance not specified 2014-10-24 criteria provided, single submitter clinical testing Although rare, mutations in the NEXN gene have been reported in association with autosomal dominant familial HCM and DCM (Wang H et al., 2010; Hassel D et al., 2009). The c.2026_2029delTAAT variant in the NEXN gene has not been published as a mutation or as a benign polymorphism to our knowledge. This mutation causes a shift in reading frame starting at codon Stop 676, changing it to a Histidine, which results in deletion of the normal stop codon and extension of the normal protein by 8 amino acid residues, denoted p.Ter676HisextX8. To date, only missense mutations and one in-frame deletion have been reported in NEXN in association with cardiomyopathy. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000183688 SCV000713662 uncertain significance not specified 2017-09-11 criteria provided, single submitter clinical testing The p.X676HisextX9 variant in NEXN has not been previously reported in individua ls with cardiomyopathy but has been identified in 13/34248 of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; d bSNP rs794729094). This variant deletes the stop codon, replaces it with a Histi dine and extends the protein by 8 amino acids. The impact of this change on prot ein function is unknown. NEXN variants have been described in individuals with D CM and HCM but they are rare and overall poorly studied. In summary, the clinica l significance of the p.X676HisextX9 variant is uncertain.

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