ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.248_249del (p.Asp82_Ser83insTer)

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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 RCV003510831 SCV004267697 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F 2023-05-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser83*) 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 sarcoglycanopathy (PMID: 28687063). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004574070 SCV005056709 pathogenic Dilated cardiomyopathy 1L 2024-03-24 criteria provided, single submitter clinical testing

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