ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.551_552del (p.Asp183_Tyr184insTer)

dbSNP: rs1057517051
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410084 SCV000486671 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2016-07-19 criteria provided, single submitter clinical testing
Invitae RCV000410084 SCV001584019 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2022-03-08 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr184*) 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 premature translational stop signal has been observed in individuals with limb-girdle muscular dystrophy (PMID: 25862795). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371156).

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