ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.790_791dup (p.Gly265fs)

dbSNP: rs1905254738
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001051164 SCV001215305 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2019-02-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly265Glnfs*57) in the SGCA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SGCA-related conditions. Loss-of-function variants in SGCA are known to be pathogenic (PMID: 9192266). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001051164 SCV001432997 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2020-02-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001051164 SCV003931702 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing

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