ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.377dup (p.Asp126fs)

dbSNP: rs1905070544
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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 RCV001386680 SCV001587012 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2018-04-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp126Glufs*65) in the SGCA gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SGCA are known to be pathogenic (PMID: 9192266). This variant has not been reported in the literature in individuals with SGCA-related disease. This variant is not present in population databases (ExAC no frequency).
Baylor Genetics RCV001386680 SCV004203179 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-05-17 criteria provided, single submitter clinical testing

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