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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