Submissions for variant NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del)

dbSNP: rs397516962

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000246521	SCV000320344	likely benign	Cardiovascular phenotype	2019-10-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Invitae	RCV000461700	SCV000555788	benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2024-01-15	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000038096	SCV000700572	likely benign	not specified	2016-11-30	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000038096	SCV000919295	likely benign	not specified	2018-04-23	criteria provided, single submitter	clinical testing	Variant summary: DSP c.8117_8119delAGA (p.Lys2706del) results in an in-frame deletion that is predicted to remove one amino acid from the encoded protein. The variant allele was found at a frequency of 0.00057 in 277174 control chromosomes. The observed variant frequency is approximately 57 fold above the estimated maximal expected allele frequency for a pathogenic variant in DSP causing Arrhythmia phenotype (1e-05), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.8117_8119delAGA in individuals affected with Arrhythmia and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014: one VUS, one likely benign, and one benign. Based on the evidence outlined above, the variant was classified as likely benign.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852998	SCV000995752	likely benign	Cardiomyopathy	2018-06-26	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000852998	SCV001353200	likely benign	Cardiomyopathy	2018-11-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001571521	SCV001796014	likely benign	not provided	2020-02-13	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001571521	SCV003799618	likely benign	not provided	2022-08-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003934918	SCV004754061	likely benign	DSP-related condition	2019-11-08	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038096	SCV000061762	uncertain significance	not specified	2014-01-30	no assertion criteria provided	clinical testing	proposed classification - variant undergoing re-assessment, contact laboratory