ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.20253del (p.Val6752fs)

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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 RCV002651521 SCV003524961 pathogenic Nemaline myopathy 2 2023-10-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val6752Serfs*4) 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 premature translational stop signal has been observed in individual(s) with clinical features of NEB-related conditions (PMID: 25473036). This variant is also known as c.15150delT. ClinVar contains an entry for this variant (Variation ID: 2203159). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003465999 SCV004200106 pathogenic Arthrogryposis multiplex congenita 6 2023-09-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005028322 SCV005650415 likely pathogenic Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 2024-03-09 criteria provided, single submitter clinical testing

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