ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.26dup (p.Leu10fs)

dbSNP: rs1904771410
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001046661 SCV001210573 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-01-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SGCA-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 843937). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu10Serfs*34) 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).

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