ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5304G>C (p.Gly1768=)

gnomAD frequency: 0.00010  dbSNP: rs530612211
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156212 SCV000205928 likely benign not specified 2014-01-02 criteria provided, single submitter clinical testing Gly1768Gly in exon 23 of DSP: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Gly1768Gly in exon 23 of DSP (allele frequenc y = n/a)
Illumina Laboratory Services, Illumina RCV000366942 SCV000465114 likely benign Epidermolysis bullosa simplex due to plakophilin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000390842 SCV000465115 likely benign Woolly hair-skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000299267 SCV000465116 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000354193 SCV000465117 likely benign Lethal acantholytic epidermolysis bullosa 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000477526 SCV000555767 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001704133 SCV000725092 likely benign not provided 2020-10-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771366 SCV000903661 benign Cardiomyopathy 2018-08-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001704133 SCV002545386 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing DSP: BP4, BP7
Ambry Genetics RCV002345514 SCV002645718 likely benign Cardiovascular phenotype 2020-01-02 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.
Breakthrough Genomics, Breakthrough Genomics RCV001704133 SCV005222755 likely benign not provided criteria provided, single submitter not provided

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.