ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.10C>T (p.Gln4Ter)

gnomAD frequency: 0.00001  dbSNP: rs1768838504
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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 RCV001970160 SCV002237262 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F 2024-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln4*) 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 variant has not been reported in the literature in individuals affected with SGCD-related conditions. ClinVar contains an entry for this variant (Variation ID: 1455950). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005032008 SCV005670714 likely pathogenic Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2024-03-06 criteria provided, single submitter clinical testing

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