ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24372_24375del (p.Arg8125fs) (rs747564597)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667496 SCV000791954 pathogenic Nemaline myopathy 2 2017-06-21 criteria provided, single submitter clinical testing
Invitae RCV000667496 SCV001226880 pathogenic Nemaline myopathy 2 2019-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg8125Serfs*54) in the NEB gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs747564597, ExAC 0.006%). This variant has been observed in individual(s) with nemaline myopathy (PMID: 25205138, 26197980). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 552268). 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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