ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.373dup (p.Ser125fs)

dbSNP: rs2109371877
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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 RCV001939636 SCV002228805 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-03-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with SGCB-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser125Lysfs*9) 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).

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