ClinVar Miner

Submissions for variant NM_001927.4(DES):c.656C>T (p.Thr219Ile) (rs144901249)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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.
Invitae RCV001084978 SCV000654177 likely benign Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2020-11-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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

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