ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24397_24398dup (p.Leu8133fs)

dbSNP: rs1553545126
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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 RCV001060847 SCV001225562 pathogenic Nemaline myopathy 2 2024-02-08 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. Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 855559). For these reasons, this variant has been classified as Pathogenic.

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