ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.23848_23851dup (p.Asn7951fs)

dbSNP: rs1559296376
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000696100 SCV000824647 pathogenic Nemaline myopathy 2 2023-04-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn7986Argfs*26) 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: 574224). For these reasons, this variant has been classified as Pathogenic.
Neuberg Centre For Genomic Medicine, NCGM RCV003338738 SCV004047917 likely pathogenic Arthrogryposis multiplex congenita 6 criteria provided, single submitter clinical testing The c.23848_23851dup (p.Asn7951ArgfsTer26) frameshift variant in NEB gene has been submitted to ClinVar as Pathogenic, but no details are available for independent assessment. It has not been reported in affected individuals. The p.Asn7951ArgfsTer26 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant causes a frameshift starting with codon Asparagine 7951, changes this amino acid to Arginine residue, and creates a premature Stop codon at position 26 of the new reading frame, denoted p.Asn7951ArgfsTer26. This variant is predicted to cause loss of normal protein function through protein truncation. Loss-offunction variants in NEB are known to be pathogenic (Lehtokari et al., 2014). For these reasons, this variant has been classified as Likely Pathogenic.
Institute of Immunology and Genetics Kaiserslautern RCV000696100 SCV005043016 pathogenic Nemaline myopathy 2 2024-04-25 criteria provided, single submitter clinical testing ACMG Criteria: PM2, PVS1, PP5; Variant was found in heterozygous state

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