ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24072_24075del (p.Pro8025fs) (rs756384471)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000549960 SCV000799414 uncertain significance Nemaline myopathy 2 2018-04-18 criteria provided, single submitter clinical testing
Invitae RCV000549960 SCV000640731 pathogenic Nemaline myopathy 2 2018-08-20 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides from exon 169 of the NEB mRNA (c.24072_24075del), causing a frameshift at codon 8025. This creates a premature translational stop signal (p.Pro8025Serfs*154) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported 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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