ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24502_24503dup (p.Leu8168fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060847 SCV001225562 pathogenic Nemaline myopathy 2 2019-04-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu8168Phefs*13) in the NEB gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs762133567, ExAC 0.002%). This variant has not been reported in the literature in individuals with NEB-related conditions. Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). For these reasons, this variant has been classified as Pathogenic.

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