ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.8222_8232del (p.Pro2741fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004577090 SCV005060899 likely pathogenic Arthrogryposis multiplex congenita 6 criteria provided, single submitter clinical testing The observed frameshift c.8222_8232del(p.Pro2741LeufsTer3) variant in NEB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Pro2741LeufsTer3 variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. This variant causes a frameshift starting with codon Proline 2741, changes this amino acid to Leucine residue, and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Pro2741LeufsTer3. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. Functional studies are required to prove pathogenicity of the variant. For these reasons, this variant has been classified as Likely Pathogenic.

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