ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.132_135dup (p.Leu46fs)

dbSNP: rs2144493427
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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 RCV001981888 SCV002212454 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2021-02-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu46Valfs*6) 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). 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. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001981888 SCV004203198 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2024-03-19 criteria provided, single submitter clinical testing

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