ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.21898C>T (p.Arg7300Ter) (rs750900690)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780533 SCV000917869 likely pathogenic Nemaline myopathy 2018-12-24 criteria provided, single submitter clinical testing Variant summary: NEB c.21898C>T (p.Arg7300X) 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 (e.g. c.24559C>T, p.Arg8187X; c.24632_24633delCT, p.Pro8211fsX4). The variant allele was found at a frequency of 8.1e-06 in 245474 control chromosomes (gnomAD and publication). The variant, c.21898C>T, has been reported in the literature in one individual affected with severe Nemaline Myopathy 2, in compound heterozygosity with NEB c.21840+5_21840+13del (Pelin_2002). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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