ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter)

dbSNP: rs763372958
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665388 SCV000789504 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2017-02-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000665388 SCV003511622 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2022-05-31 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: 550601). 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.Glu352*) 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).
Genome-Nilou Lab RCV000665388 SCV003931713 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing

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