Submissions for variant NM_001927.4(DES):c.243C>T (p.Ser81=)

gnomAD frequency: 0.00015  dbSNP: rs201594392

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000156075	SCV000205788	likely benign	not specified	2013-11-12	criteria provided, single submitter	clinical testing	Ser81Ser in exon 1 of DES: This variant is not expected to have clinical signifi cance because it does not alter an amino acid residue and is not located within the splice consensus sequence. ** Ser81Ser in exon 1 of DES (allele frequency = n/a)
Eurofins Ntd Llc (ga)	RCV000156075	SCV000332849	likely benign	not specified	2016-08-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000471679	SCV000562346	likely benign	Desmin-related myofibrillar myopathy	2025-01-17	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000156075	SCV000613088	likely benign	not specified	2017-06-26	criteria provided, single submitter	clinical testing
GeneDx	RCV001697118	SCV000716761	likely benign	not provided	2021-02-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620327	SCV000737004	benign	Cardiovascular phenotype	2016-12-14	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486705	SCV004240481	benign	Cardiomyopathy	2023-01-31	criteria provided, single submitter	clinical testing