ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs)

dbSNP: rs1598277713
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730722 SCV000858484 pathogenic not provided 2017-12-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV003472264 SCV004203148 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-10-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003472264 SCV004413602 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-06-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 595224). This variant has not been reported in the literature in individuals affected with SGCA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala348Aspfs*23) 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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