Submissions for variant NM_000337.6(SGCD):c.123C>G (p.Leu41=)

gnomAD frequency: 0.00015  dbSNP: rs200670993

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041401	SCV000065096	likely benign	not specified	2012-04-11	criteria provided, single submitter	clinical testing	Leu41Leu in Exon 03 of SGCD: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence. It has been identified in 0.2% (5/3202) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Proj ect (http://evs.gs.washington.edu/EVS;). Leu41Leu in Exon 03 of SGCD (allele fr equency = 0.2%, 5/3202) **
Eurofins Ntd Llc (ga)	RCV000725068	SCV000333729	uncertain significance	not provided	2015-09-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085117	SCV000562854	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2F	2024-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001156235	SCV001317722	uncertain significance	Qualitative or quantitative defects of delta-sarcoglycan	2018-01-13	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Athena Diagnostics	RCV000041401	SCV001879507	likely benign	not specified	2021-01-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000725068	SCV001942875	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002371857	SCV002671404	likely benign	Inborn genetic diseases	2022-06-06	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000725068	SCV001744518	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000725068	SCV001974550	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000725068	SCV002036209	likely benign	not provided		no assertion criteria provided	clinical testing