ClinVar Miner

Submissions for variant NM_005198.5(CHKB):c.939del (p.Arg314fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003031054 SCV003314183 pathogenic Megaconial type congenital muscular dystrophy 2024-01-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg314Valfs*27) in the CHKB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHKB are known to be pathogenic (PMID: 21665002). This variant is present in population databases (rs772568756, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with CHKB-related conditions. ClinVar contains an entry for this variant (Variation ID: 2098656). For these reasons, this variant has been classified as Pathogenic.

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