ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.28G>T (p.Glu10Ter)

dbSNP: rs1448040082
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000642669 SCV000764356 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2024-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu10*) 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: 534947). For these reasons, this variant has been classified as Pathogenic.
Eurofins Ntd Llc (ga) RCV000728183 SCV000855727 pathogenic not provided 2017-07-12 criteria provided, single submitter clinical testing
Palindrome, Gene Kavoshgaran Aria RCV000642669 SCV005689451 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2024-12-17 criteria provided, single submitter clinical testing

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