ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3650C>T (p.Thr1217Met) (rs535202724)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150568 SCV000197821 uncertain significance not specified 2014-01-24 criteria provided, single submitter clinical testing The Thr1217Met variant in DSP has been reported in 1 individual with ARVC, who a lso carried another variant in a different gene (http://arvcdatabase.info/defaul t.aspx, no further information available). It has not been identified in large p opulation studies. Computational analyses (biochemical amino acid properties, co nservation, AlignGVGD, PolyPhen2, and SIFT) suggest that this variant may not im pact the protein, though this information is not predictive enough to rule out p athogenicity. Additional information is needed to fully assess the clinical sig nificance of the Thr1217Met variant.
Illumina Clinical Services Laboratory,Illumina RCV000352140 SCV000465002 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381164 SCV000465003 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288923 SCV000465004 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346210 SCV000465005 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620762 SCV000737826 likely benign Cardiovascular phenotype 2016-11-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Invitae RCV000641836 SCV000763486 likely benign not provided 2019-01-01 criteria provided, single submitter clinical testing
Color RCV000777712 SCV000913655 likely benign Cardiomyopathy 2018-10-10 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.