ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1251+1del

dbSNP: rs2102147202
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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 RCV001983393 SCV002246923 likely pathogenic Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 2022-09-19 criteria provided, single submitter clinical testing This sequence change affects a splice site in intron 10 of the NEXN gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NEXN are known to be pathogenic (PMID: 32058062, 32814711, 32870709, 33949776). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NEXN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1461682). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
AiLife Diagnostics, AiLife Diagnostics RCV002223331 SCV002501165 likely pathogenic not provided 2021-05-26 criteria provided, single submitter clinical testing

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