ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs)

dbSNP: rs1207685911
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043800 SCV001207564 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2024-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala4Glyfs*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. ClinVar contains an entry for this variant (Variation ID: 841552). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001043800 SCV002813263 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-10-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001043800 SCV003827630 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-04-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV001043800 SCV005056705 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2024-01-23 criteria provided, single submitter clinical testing

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