ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.507G>A (p.Ala169=)

gnomAD frequency: 0.00680  dbSNP: rs10071079
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041408 SCV000065103 benign not specified 2012-07-03 criteria provided, single submitter clinical testing 1.5% (59/3856) of Afr Amer chrom from ESP
Illumina Laboratory Services, Illumina RCV000379606 SCV000455491 likely benign Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000278176 SCV000455492 benign 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 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001083717 SCV000562853 benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313734 SCV000739909 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770207 SCV000901637 benign Cardiomyopathy 2016-11-09 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000473741 SCV001145591 benign not provided 2019-06-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000041408 SCV001363521 benign not specified 2019-08-24 criteria provided, single submitter clinical testing
GeneDx RCV000473741 SCV001943907 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477129 SCV002798024 likely benign Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2022-02-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001083717 SCV003931863 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233094 SCV003931864 likely benign Dilated cardiomyopathy 1L 2023-02-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000473741 SCV004562808 benign not provided 2023-08-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003924987 SCV004740773 benign SGCD-related disorder 2019-05-20 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics RCV000473741 SCV005220294 likely benign not provided criteria provided, single submitter not provided

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