ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.801dup (p.Ile268fs)

dbSNP: rs1905256830
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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 RCV001057349 SCV001221836 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2021-07-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile268Aspfs*5) in the SGCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCA are known to be pathogenic (PMID: 9192266). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 852690). This variant has not been reported in the literature in individuals affected with SGCA-related conditions. This variant is not present in population databases (ExAC no frequency).
Baylor Genetics RCV001057349 SCV004203186 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-03-20 criteria provided, single submitter clinical testing

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