ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.3858C>A (p.Cys1286Ter) (rs1386238241)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512795 SCV000608970 likely pathogenic not provided 2017-02-28 criteria provided, single submitter clinical testing
Invitae RCV000641301 SCV000762942 pathogenic Nemaline myopathy 2 2018-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys1286*) 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: 444521). 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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