ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24278_24279AG[2] (p.Arg8094fs) (rs1266535163)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665614 SCV000789764 likely pathogenic Nemaline myopathy 2 2017-02-16 criteria provided, single submitter clinical testing
Invitae RCV000665614 SCV001386193 pathogenic Nemaline myopathy 2 2019-05-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg8094Serfs*9) 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 been observed to be homozygous in individuals affected with nemaline myopathy (PMID: 12207938, 25205138, 16917880). ClinVar contains an entry for this variant (Variation ID: 550775). This variant is also known as del(AG) codon 21-22 of exon 177d and g.234866_234867delAG 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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