ClinVar Miner

Submissions for variant NC_000002.11:g.(?_152490288)_(152493899_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004582558 SCV005063174 likely pathogenic Nemaline myopathy 2 2023-06-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NEB-related conditions. This variant results in the deletion of exon 64 and part of exon 65 (c.8995-1051_9294del) of the NEB 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 NEB are known to be pathogenic (PMID: 25205138). 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.

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