ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.82G>T (p.Glu28Ter)

dbSNP: rs771814273
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001387067 SCV001587561 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-06-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu28*) 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: 1073925). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001387067 SCV002020107 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2019-10-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001387067 SCV004201019 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-11-13 criteria provided, single submitter clinical testing

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