ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.8031_8041del (p.Lys2677fs) (rs398124172)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000179210 SCV000485298 likely pathogenic Nemaline myopathy 2 2015-11-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000728813 SCV000856429 pathogenic not provided 2017-08-18 criteria provided, single submitter clinical testing
Invitae RCV000179210 SCV001404949 pathogenic Nemaline myopathy 2 2019-11-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys2677Asnfs*7) 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 in individual(s) with nemaline myopathy (PMID: 16917880, 25205138). This variant is also known as g.89878_89888delAAATAAACGAG, Lys2677fs in the literature. ClinVar contains an entry for this variant (Variation ID: 95138). 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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