ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.6385C>T (p.Gln2129Ter) (rs80344795)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000261206 SCV000333821 pathogenic not provided 2015-08-30 criteria provided, single submitter clinical testing
Invitae RCV001058361 SCV001222923 pathogenic Nemaline myopathy 2 2019-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2129*) in the NEB gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs80344795, ExAC 0.002%). This variant has been observed in individual(s) with nemaline myopathy (PMID: 25205138). ClinVar contains an entry for this variant (Variation ID: 282373). Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). For these reasons, this variant has been classified as Pathogenic.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001058361 SCV001251740 pathogenic Nemaline myopathy 2 2020-05-03 criteria provided, single submitter clinical testing

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