ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24218C>A (p.Ser8073Ter) (rs1458048713)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000588345 SCV000697814 likely pathogenic Nemaline myopathy 2019-05-16 criteria provided, single submitter clinical testing Variant summary: NEB c.24218C>A (p.Ser8073X) 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 of this position have been classified as pathogenic by our laboratory (c.24407_24410dupTGTT, p.Leu8137fsX18; c.24559C>T, p.Arg8187X; c.25241T>G, p.Leu8414X). The variant allele was found at a frequency of 3.6e-05 in 138376 control chromosomes (gnomAD). The variant, c.24218C>A, has been reported in the literature in individuals affected with Nemaline Myopathy 2 (Levesque_2016, Lehtokari_2006, Lehtokari_2014). 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. One ClinVar submission from other clinical diagnostic laboratories (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Counsyl RCV000666431 SCV000790722 pathogenic Nemaline myopathy 2 2017-04-06 no assertion criteria provided clinical testing

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