ClinVar Miner

Submissions for variant NM_138638.5(CFL2):c.100_103del (p.Lys34fs)

dbSNP: rs1885387438
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001919773 SCV002159566 pathogenic Nemaline myopathy 7 2021-08-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with nemaline myopathy (PMID: 24610938). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys34Glnfs*6) in the CFL2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CFL2 are known to be pathogenic (PMID: 24610938, 27447704, 29457652).
PreventionGenetics, part of Exact Sciences RCV003416556 SCV004118393 pathogenic CFL2-related disorder 2023-09-28 criteria provided, single submitter clinical testing The CFL2 c.100_103delAAAG variant is predicted to result in a frameshift and premature protein termination (p.Lys34Glnfs*6). This variant has been reported in the homozygous state to be causative for autosomal recessive early-onset nemaline myopathy in a single patient (Ong et al. 2014. PubMed ID: 24610938). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in CFL2 are expected to be pathogenic. This variant is interpreted as pathogenic.

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