ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.85dup (p.Arg29fs)

dbSNP: rs2109376054
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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 RCV001920780 SCV002189802 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-06-11 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 sequence change creates a premature translational stop signal (p.Arg29Lysfs*6) 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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