ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.1623del (p.Asp542fs) (rs772366030)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697148 SCV000825744 pathogenic Nemaline myopathy 2 2018-08-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp542Ilefs*15) in the NEB gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs772366030, ExAC 0.003%). This variant has been observed in two families affected with nemaline myopathy (PMID: 16917880, 25205138). This variant is also known as g.37528delT in the literature. 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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