ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24771del (p.Phe8257fs) (rs794727136)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000262527 SCV000329692 pathogenic not provided 2018-08-09 criteria provided, single submitter clinical testing The c.24771delT pathogenic variant in the NEB gene causes a frameshift starting with codon Phenylalanine 8257, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Phe8257LeufsX10. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.24771del variant was not observed in approximately 5,900 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although this variant has not been previously reported to our knowledge, other frameshift variants in the NEB gene have been reported in the Human Gene Mutation Database in association with nemaline myopathy (Stenson et al., 2014).
Invitae RCV000670684 SCV001232114 pathogenic Nemaline myopathy 2 2019-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe8257Leufs*10) in the NEB gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 279999). Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000670684 SCV000795570 likely pathogenic Nemaline myopathy 2 2017-11-09 no assertion criteria provided clinical testing

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