ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.862del (p.Val288fs)

dbSNP: rs2144501024
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001883739 SCV002143557 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2021-07-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SGCA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val288Trpfs*33) 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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