Submissions for variant NM_001927.4(DES):c.99C>T (p.Pro33=)

gnomAD frequency: 0.00006  dbSNP: rs774006810

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000218133	SCV000270098	likely benign	not specified	2014-12-31	criteria provided, single submitter	clinical testing	p.Pro33Pro in exon 1 of DES: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence.
GeneDx	RCV000218133	SCV000512794	benign	not specified	2015-05-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080097	SCV000562358	likely benign	Desmin-related myofibrillar myopathy	2024-01-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000477613	SCV001153315	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	DES: BP4, BP7
Ambry Genetics	RCV002381728	SCV002694095	likely benign	Cardiovascular phenotype	2020-12-08	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	RCV003486770	SCV004240486	likely benign	Cardiomyopathy	2022-07-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003929888	SCV004756706	likely benign	DES-related disorder	2020-11-06	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).