ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) (rs549794342)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414803 SCV000492632 likely pathogenic Muscular dystrophy; Progressive proximal muscle weakness; Limb pain 2015-09-15 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416049 SCV000493368 pathogenic not provided 2019-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000416049 SCV000571535 likely pathogenic not provided 2016-09-14 criteria provided, single submitter clinical testing The R8032X variant in the NEB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R8032X variant was not observed in approximately 2300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R8032X variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
Invitae RCV000576327 SCV000814554 pathogenic Nemaline myopathy 2 2019-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg8032*) in the NEB gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs549794342, ExAC 0.09%). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 373977). Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000576327 SCV000893562 likely pathogenic Nemaline myopathy 2 2018-10-31 criteria provided, single submitter clinical testing
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000576327 SCV000996203 likely pathogenic Nemaline myopathy 2 2018-10-04 criteria provided, single submitter clinical testing This nonsense variant found in exon 168 of 182 is predicted to result in loss of normal protein function. It is present in the heterozygous state in the gnomAD population database at a frequency of 0.03% (61/183470) and thus is presumed to be rare. This variant has been classified as likely pathogenic by several clinical diagnostic labs in the ClinVar database (Variation ID: 373977). Based on the available evidence, the c.23989C>T (p.Arg7997Ter) variant is classified as likely pathogenic.
Counsyl RCV000576327 SCV000678085 uncertain significance Nemaline myopathy 2 2019-06-20 no assertion criteria provided clinical testing

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