ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.770del (p.Pro257fs)

dbSNP: rs886043962
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000390542 SCV000342806 pathogenic not provided 2016-06-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003621525 SCV004486458 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-07-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro257Leufs*64) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SGCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 288637). For these reasons, this variant has been classified as Pathogenic.

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