ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24407_24410dup (p.Leu8137fs) (rs1344099907)

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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 RCV000781649 SCV000919861 pathogenic Nemaline myopathy 2017-12-26 criteria provided, single submitter clinical testing Variant summary: The NEB c.24407_24410dupTGTT (p.Leu8137PhefsX18) variant results in a premature termination codon, predicted to cause a truncated or absent NEB 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., p.Arg8187X and p.Pro8211fsX4). One in silico tool predicts a damaging outcome for this variant. This variant was found in 2/178594 control chromosomes at a frequency of 0.0000112, which does not exceed the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355). In the literature, the variant has been reported in several patients and families with nemaline myopathy as both a compound heterozygous and homozygous allele. Taken together, this variant is classified as pathogenic.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000790962 SCV000930217 likely pathogenic Nemaline myopathy 2 2019-04-27 criteria provided, single submitter clinical testing

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