ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.65dup (p.Tyr23fs)

dbSNP: rs886043031
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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) RCV000335870 SCV000338060 pathogenic not provided 2015-12-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003619667 SCV004535413 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F 2023-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr23Ilefs*43) in the SGCD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCD are known to be pathogenic (PMID: 8841194, 10735275, 10838250). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with SGCD-related conditions (PMID: 30564623). ClinVar contains an entry for this variant (Variation ID: 285158). For these reasons, this variant has been classified as Pathogenic.

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