Submissions for variant NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter)

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Total submissions: 4

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001383444	SCV001582592	pathogenic	Nemaline myopathy 2	2024-02-11	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Glu6386*) in the NEB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 1071068). For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002282537	SCV002570703	likely pathogenic	Nemaline myopathy	2022-07-20	criteria provided, single submitter	clinical testing	Variant summary: NEB c.19156G>T (p.Glu6386X) 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. The variant was absent in 245588 control chromosomes (gnomAD). To our knowledge, no occurrence of c.19156G>T in individuals affected with Nemaline Myopathy 2 and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014, and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Baylor Genetics	RCV003469696	SCV004200247	likely pathogenic	Arthrogryposis multiplex congenita 6	2023-06-17	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV005023139	SCV005650421	likely pathogenic	Nemaline myopathy 2; Arthrogryposis multiplex congenita 6	2024-02-05	criteria provided, single submitter	clinical testing

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