ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.-15_8dup (p.Ala5fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003472678 SCV004200999 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-05-18 criteria provided, single submitter clinical testing
Invitae RCV003472678 SCV004650879 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-12-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala5Glyfs*22) 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.

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