ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter)

dbSNP: rs104893868
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000009251 SCV000486102 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2016-03-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000009251 SCV003525502 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2022-07-07 criteria provided, single submitter clinical testing 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 variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with SGCB-related conditions (PMID: 7581449, 9032047, 12868499, 25862795). ClinVar contains an entry for this variant (Variation ID: 8713). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000009251 SCV000029469 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 1995-11-01 no assertion criteria provided literature only

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