Submissions for variant NM_001271208.2(NEB):c.22746del (p.Met7582fs) (rs1057515573)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000015090	SCV000945527	pathogenic	Nemaline myopathy 2	2019-09-06	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Met7582Ilefs*5) 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: 14046). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). For these reasons, this variant has been classified as Pathogenic.
OMIM	RCV000015090	SCV000035347	pathogenic	Nemaline myopathy 2	1999-03-02	no assertion criteria provided	literature only

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