ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1353C>T (p.Ile451=)

dbSNP: rs121913002
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Total submissions: 8
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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 RCV000219399 SCV000268936 benign not specified 2015-10-01 criteria provided, single submitter clinical testing p.Ile451Ile in exon 8 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. It has been identified in 1.1% (43/3920) of Eas t Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs121913002).
Ambry Genetics RCV000252451 SCV000318247 likely benign Cardiovascular phenotype 2017-04-10 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.
Eurofins Ntd Llc (ga) RCV000725063 SCV000333695 uncertain significance not provided 2015-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085732 SCV000562357 benign Desmin-related myofibrillar myopathy 2025-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000725063 SCV001890941 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798700 SCV002043130 benign Cardiomyopathy 2021-05-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000219399 SCV001917528 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000725063 SCV001929632 likely benign not provided no assertion criteria provided clinical testing

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