ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.25136T>G (p.Leu8379Ter)

dbSNP: rs760200697
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781652 SCV000919864 pathogenic Nemaline myopathy 2018-01-19 criteria provided, single submitter clinical testing Variant summary: The NEB c.25241T>G (p.Leu8414X) 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.This variant was found in 1/218132 control chromosomes (gnomAD and publication controls) at a frequency of 0.0000046, which does not exceed the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355). Multiple publications have cited the variant in affected compound heterozygote individuals with Nemaline Myopathy. The variant of interest has not, to our knowledge, been cited by clinical diagnostic laboratories. Taken together, this variant is classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001214341 SCV001386018 pathogenic Nemaline myopathy 2 2023-10-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu8414*) 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 present in population databases (rs760200697, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with NEB-related conditions. This variant is also known as p.L6523*. ClinVar contains an entry for this variant (Variation ID: 633334). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004569492 SCV005052091 pathogenic Arthrogryposis multiplex congenita 6 2024-02-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001214341 SCV002083939 pathogenic Nemaline myopathy 2 2021-03-04 no assertion criteria provided clinical testing

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