Submissions for variant NM_000337.6(SGCD):c.144G>C (p.Val48=)

gnomAD frequency: 0.00106  dbSNP: rs372152495

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000154565	SCV000171620	benign	not specified	2014-04-08	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154565	SCV000204238	benign	not specified	2012-04-04	criteria provided, single submitter	clinical testing	proposed classification - variant undergoing re-assessment, contact laboratory
Labcorp Genetics (formerly Invitae), Labcorp	RCV000232413	SCV000284648	benign	Autosomal recessive limb-girdle muscular dystrophy type 2F	2024-01-30	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000154565	SCV000338989	likely benign	not specified	2016-01-21	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770204	SCV000901633	benign	Cardiomyopathy	2015-09-17	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000154565	SCV001476085	benign	not specified	2020-08-21	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000154565	SCV001572359	benign	not specified	2021-04-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390294	SCV002701837	likely benign	Inborn genetic diseases	2022-05-17	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab	RCV000232413	SCV003931783	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2F	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003233108	SCV003931784	likely benign	Dilated cardiomyopathy 1L	2023-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915272	SCV004729636	likely benign	SGCD-related disorder	2020-01-02	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).