ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.856C>T (p.Arg286Trp) (rs199917913)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183653 SCV000236122 uncertain significance not specified 2016-05-11 criteria provided, single submitter clinical testing p.Arg286Trp (CGG>TGG):c.856 C>T in exon 8 of the NEXN gene (NM_144573.3). The Arg286Trp variant in the NEXN gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Arg286Trp results in a non-conservative amino acid substitution of a positively charged Arginine with a neutral Tryptophan at a position that is only conserved in mammals. A single nearby mutation (Arg279Cys), also in the coiled-coil domain of the nexilin protein, has been reported in association with HCM (Wang H et al., 2010). Although Arg279Cys co-segregated with HCM in a small Han Chinese family, functional studies indicated that this mutation did not change the binding ability of nexilin to alpha-actin (Wang H et al., 2010). The NHLBI ESP Exome Variant Server reports Arg286Trp was observed in 1/8182 (0.01%) alleles from individuals of European background and 1/3680 alleles (0.03%) from individuals of African American background. With the clinical and molecular information available at this time, we cannot definitively determine if Arg286Trp is a disease-causing mutation or a rare benign variant. The variant is found in DCM panel(s).
Ambry Genetics RCV000252316 SCV000318035 likely benign Cardiovascular phenotype 2018-06-29 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification
Invitae RCV000456476 SCV000549232 likely benign Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2020-08-25 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000623726 SCV000740645 uncertain significance Primary familial hypertrophic cardiomyopathy 2016-08-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170498 SCV001333081 benign Cardiomyopathy 2018-09-14 criteria provided, single submitter clinical testing

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