ClinVar Miner

Submissions for variant NM_001927.4(DES):c.656C>T (p.Thr219Ile)

gnomAD frequency: 0.00058  dbSNP: rs144901249
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Total submissions: 9
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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 RCV000217963 SCV000271622 uncertain significance not specified 2017-08-03 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Thr219Ile var iant in DES has not been previously reported in individuals with cardiomyopathy, but has been identified in 0.17% (43/24036) of African chromosomes by the Genom e Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs144901 249). Computational prediction tools and conservation analysis do not provide st rong support for or against an impact to the protein. In summary, while the clin ical significance of the p.Thr219Ile variant is uncertain, its frequency suggest s that it is more likely to be benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001084978 SCV000654177 likely benign Desmin-related myofibrillar myopathy 2024-01-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726722 SCV000702434 uncertain significance not provided 2016-10-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770168 SCV000901594 uncertain significance Cardiomyopathy 2016-10-24 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000726722 SCV001713263 uncertain significance not provided 2019-07-22 criteria provided, single submitter clinical testing
GeneDx RCV000726722 SCV001813765 uncertain significance not provided 2024-06-12 criteria provided, single submitter clinical testing Reported in patients with myopathy and hypertrophic cardiomyopathy who also harbored additional variants in other myopathy- and cardiomyopathy-related genes (PMID: 30323756, 32746448); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26807690, 32746448, 30323756)
Ambry Genetics RCV002363072 SCV002663509 benign Cardiovascular phenotype 2022-05-23 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.
Revvity Omics, Revvity RCV000726722 SCV003829017 uncertain significance not provided 2021-07-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000217963 SCV005393993 likely benign not specified 2024-09-04 criteria provided, single submitter clinical testing

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