ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.22746del (p.Met7582fs) (rs1057515573)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000015090 SCV000945527 pathogenic Nemaline myopathy 2 2019-09-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met7582Ilefs*5) in the NEB gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 14046). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000015090 SCV000035347 pathogenic Nemaline myopathy 2 1999-03-02 no assertion criteria provided literature only

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