Submissions for variant NM_000231.3(SGCG):c.312T>G (p.Leu104=)

gnomAD frequency: 0.47318  dbSNP: rs1800351

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078404	SCV000110250	benign	not specified	2013-09-13	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000078404	SCV000152725	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000078404	SCV000269823	benign	not specified	2014-11-26	criteria provided, single submitter	clinical testing	p.Leu104Leu in exon 4 of SGCG: This variant is not expected to have clinical sig nificance because it has been identified in 67% (2958/4406) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS/; dbSNP rs1800351).
PreventionGenetics, part of Exact Sciences	RCV000078404	SCV000303090	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000302440	SCV000383246	benign	Limb-girdle muscular dystrophy, recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094096	SCV000383247	benign	Sarcoglycanopathy	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000078404	SCV000517214	benign	not specified	2016-01-05	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.
Athena Diagnostics	RCV000710215	SCV000677485	benign	not provided	2017-04-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000360063	SCV001725023	benign	Autosomal recessive limb-girdle muscular dystrophy type 2C	2024-02-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000360063	SCV001750002	benign	Autosomal recessive limb-girdle muscular dystrophy type 2C	2021-07-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000710215	SCV005230824	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000360063	SCV000733200	benign	Autosomal recessive limb-girdle muscular dystrophy type 2C		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000360063	SCV001455347	benign	Autosomal recessive limb-girdle muscular dystrophy type 2C	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000078404	SCV001925638	benign	not specified		no assertion criteria provided	clinical testing