ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.-18_8dup (p.Ala6fs)

dbSNP: rs2109380938
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001585162 SCV001818492 pathogenic not provided 2019-02-18 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 18683213, 18285821)
Labcorp Genetics (formerly Invitae), Labcorp RCV001866182 SCV002231826 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala4Trpfs*18) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with SGCB-related conditions. For these reasons, this variant has been classified as Pathogenic.

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