ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6345G>T (p.Leu2115Phe)

gnomAD frequency: 0.00002  dbSNP: rs766950975
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545660 SCV000641332 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-10-20 criteria provided, single submitter clinical testing
GeneDx RCV001565051 SCV001788321 uncertain significance not provided 2023-11-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002367853 SCV002659528 uncertain significance Cardiovascular phenotype 2020-03-04 criteria provided, single submitter clinical testing The p.L2115F variant (also known as c.6345G>T), located in coding exon 24 of the DSP gene, results from a G to T substitution at nucleotide position 6345. The leucine at codon 2115 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330771 SCV004038135 uncertain significance not specified 2023-08-19 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.