Submissions for variant NM_000337.6(SGCD):c.97C>T (p.Arg33Ter)

dbSNP: rs778760498

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002007476	SCV002227969	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2F	2021-08-18	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 20623375). This variant is present in population databases (rs778760498, ExAC 0.001%). This sequence change creates a premature translational stop signal (p.Arg33*) 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).
Fulgent Genetics, Fulgent Genetics	RCV002497864	SCV002802160	pathogenic	Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F	2021-10-22	criteria provided, single submitter	clinical testing
GeneDx	RCV003170165	SCV003915212	pathogenic	not provided	2022-10-11	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 20623375)
Genome-Nilou Lab	RCV002007476	SCV003931773	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2F	2023-02-08	criteria provided, single submitter	clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV002007476	SCV004805037	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2F	2024-03-17	criteria provided, single submitter	research