ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.2920C>T (p.Arg974Ter) (rs1553548666)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000530974 SCV000794613 likely pathogenic Nemaline myopathy 2 2017-10-02 criteria provided, single submitter clinical testing
Invitae RCV000530974 SCV000640767 pathogenic Nemaline myopathy 2 2016-11-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 974 (p.Arg974*) of the NEB gene. It is expected to result in an absent or disrupted protein product. Truncating variants in NEB are known to be pathogenic (PMID: 25205138). This variant has been reported in the homozygous state in individuals and families affected with fetal akinesia with lethal multiple pterygia syndrome (PMID: 26578207, 25205138). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000530974 SCV000713852 pathogenic Nemaline myopathy 2 2018-04-02 no assertion criteria provided literature only

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