ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.601C>T (p.Gln201Ter)

gnomAD frequency: 0.00001  dbSNP: rs773554421
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001972590 SCV002238207 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-08-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1457210). This variant has not been reported in the literature in individuals affected with SGCB-related conditions. This variant is present in population databases (rs773554421, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Gln201*) 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).
Baylor Genetics RCV001972590 SCV004200993 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-06-27 criteria provided, single submitter clinical testing

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