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
Invitae	RCV000549960	SCV000640731	pathogenic	Nemaline myopathy 2	2019-11-29	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.
Counsyl	RCV000549960	SCV000799414	uncertain significance	Nemaline myopathy 2	2018-04-18	criteria provided, single submitter	clinical testing

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