ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.962del (p.Arg321fs)

dbSNP: rs915318065
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001316118 SCV001506722 pathogenic Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 2022-09-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1017027). This variant has not been reported in the literature in individuals affected with NEXN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg321Lysfs*17) in the NEXN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NEXN are known to be pathogenic (PMID: 32058062, 32814711, 32870709, 33949776). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001316118 SCV002781267 uncertain significance Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 2022-05-05 criteria provided, single submitter clinical testing

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