ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.489del (p.Leu164fs)

gnomAD frequency: 0.00001  dbSNP: rs753650776
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593004 SCV000701553 pathogenic not provided 2016-09-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000411266 SCV003783259 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-10-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu164Serfs*47) 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 present in population databases (rs753650776, gnomAD 0.01%). 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: 290625). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000411266 SCV000486984 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2016-09-21 no assertion criteria provided clinical testing

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