ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.233_234delinsGA (p.Tyr78Ter)

dbSNP: rs1598265248
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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 RCV000792267 SCV000931551 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2018-12-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr78*) in the SGCA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy (LGMD) (PMID: 28403181). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Loss-of-function variants in SGCA are known to be pathogenic (PMID: 9192266). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000792267 SCV004203163 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-08-30 criteria provided, single submitter clinical testing

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