ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.-8_8dup (p.Ala4fs)

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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 RCV003510512 SCV004253281 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala4Argfs*26) in the SGCB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCB are known to be pathogenic (PMID: 15938573, 18285821). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SGCB-related conditions. For these reasons, this variant has been classified as Pathogenic.

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