ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs)

dbSNP: rs1344099907
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Total submissions: 6
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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 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000790962 SCV001412131 pathogenic Nemaline myopathy 2 2023-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu8137Phefs*18) 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 (no rsID available, gnomAD 0.009%). This premature translational stop signal has been observed in individuals with NEB-related conditions (PMID: 25205138, 26019235). This variant is also known as c.24209_24212dupTGTT (p.L8071fs). ClinVar contains an entry for this variant (Variation ID: 633333). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003141765 SCV003825929 pathogenic not provided 2022-05-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV003467314 SCV004200089 pathogenic Arthrogryposis multiplex congenita 6 2024-03-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV000790962 SCV002083972 pathogenic Nemaline myopathy 2 2020-11-02 no assertion criteria provided clinical testing

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