ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24372_24375dup (p.Val8126fs) (rs747564597)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674288 SCV000799598 pathogenic Nemaline myopathy 2 2018-04-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV001193559 SCV001362463 pathogenic Nemaline myopathy 2019-08-23 criteria provided, single submitter clinical testing Variant summary: NEB c.24372_24375dupAAGA (p.Val8126LysfsX10) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream and around this position have been classified as pathogenic by our laboratory. The variant was absent in 205580 control chromosomes (gnomAD). c.24372_24375dupAAGA has been reported in the literature in individuals affected with Nemaline Myopathy 2 (Lehtokari_2014, Scoto_2013). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submission (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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