ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.28G>T (p.Glu10Ter)

dbSNP: rs1448040082
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000642669 SCV000764356 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2020-02-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SGCB are known to be pathogenic (PMID: 15938573, 18285821). This variant has not been reported in the literature in individuals with SGCB-related disease. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Glu10*) in the SGCB gene. It is expected to result in an absent or disrupted protein product.
Eurofins Ntd Llc (ga) RCV000728183 SCV000855727 pathogenic not provided 2017-07-12 criteria provided, single submitter clinical testing

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