Submissions for variant NM_001927.4(DES):c.792C>T (p.Asp264=)

gnomAD frequency: 0.00168  dbSNP: rs150370918

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037253	SCV000060910	benign	not specified	2013-04-17	criteria provided, single submitter	clinical testing	Asp264Asp in exon 4 of DES: This variant is not expected to have clinical signif icance because it does not change an amino acid and has been identified in 7/128 Mexican American chromosomes by the 1000 Genomes Project (dbSNP rs150370918).
Eurofins Ntd Llc (ga)	RCV000037253	SCV000230186	benign	not specified	2015-05-05	criteria provided, single submitter	clinical testing
Invitae	RCV000204254	SCV000261383	benign	Desmin-related myofibrillar myopathy	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000037253	SCV000308547	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000242387	SCV000317864	benign	Cardiovascular phenotype	2017-02-17	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Illumina Laboratory Services, Illumina	RCV000345483	SCV000427710	likely benign	Myofibrillar Myopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000381468	SCV000427711	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 Laboratory Services, Illumina	RCV000204254	SCV000427712	likely benign	Desmin-related myofibrillar myopathy	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 Laboratory Services, Illumina	RCV000350858	SCV000427713	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000037253	SCV001338173	benign	not specified	2020-02-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000037253	SCV001475072	benign	not specified	2019-09-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001675592	SCV001892879	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001675592	SCV002048717	benign	not provided	2023-10-09	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496583	SCV002810209	likely benign	Dilated cardiomyopathy 1I; Desmin-related myofibrillar myopathy; Neurogenic scapuloperoneal syndrome, Kaeser type	2021-09-01	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486562	SCV004240483	benign	Cardiomyopathy	2023-05-16	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000037253	SCV000150956	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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037253	SCV001957233	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001675592	SCV001972250	likely benign	not provided		no assertion criteria provided	clinical testing