ClinVar Miner

Submissions for variant NM_001927.4(DES):c.372G>A (p.Glu124=) (rs34365369)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037238 SCV000060895 benign not specified 2010-06-22 criteria provided, single submitter clinical testing This silent variant is not expected to have clinical significance because it doe s not alter an amino acid residue and is not located near a splice junction. Fur thermore, it is present in 7% of the African American population (dbSNP;rs343653 69).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000037238 SCV000202611 benign not specified 2013-12-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000037238 SCV000308538 benign not specified 2016-02-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000252338 SCV000317912 benign Cardiovascular phenotype 2015-10-28 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Illumina Clinical Services Laboratory,Illumina RCV000364043 SCV000427682 likely benign Myofibrillar myopathy 1 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000271597 SCV000427683 likely benign Dilated cardiomyopathy 1I 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000329285 SCV000427684 benign Neurogenic scapuloperoneal syndrome, Kaeser type 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.
Illumina Clinical Services Laboratory,Illumina RCV000376849 SCV000427685 benign Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000472667 SCV000562355 benign Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2020-12-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711439 SCV000841805 benign not provided 2018-07-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287303 SCV001473978 benign none provided 2020-08-23 criteria provided, single submitter clinical testing
GeneDx RCV000711439 SCV001862473 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000037238 SCV000150952 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000711439 SCV001744597 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000037238 SCV001926016 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000711439 SCV001958024 likely benign not provided no assertion criteria provided clinical testing

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