Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038112 | SCV000061778 | likely benign | not specified | 2015-02-18 | criteria provided, single submitter | clinical testing | p.Ser2843_Arg2846del in exon 24 of DSP: This variant is not expected to have cli nical significance because it has been identified in 0.4% (50/11494) of Latino c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org). This in-frame deletion of four amino acids occurs within a region of repe ating amino acids. It can result from several different DNA deletions, and is pr esent in mammals (dolphin, opossum, and platypus) and other evolutionarily dista nt species. |
Gene |
RCV000845325 | SCV000233697 | likely benign | not provided | 2018-07-17 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27532257, 24503780, 21636032, 25445213, 31402444) |
Labcorp Genetics |
RCV001079689 | SCV000641358 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2025-01-17 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000038112 | SCV000987371 | likely benign | not specified | 2025-02-17 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001186904 | SCV001353514 | likely benign | Cardiomyopathy | 2018-11-09 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000038112 | SCV001360929 | benign | not specified | 2024-11-15 | criteria provided, single submitter | clinical testing | Variant summary: DSP c.8508_8519delATCTCGCTCCGG (p.Ser2843_Arg2846del) results in an in-frame deletion in a repeat region that is predicted to remove 4 amino acids from the encoded protein. The variant allele was found at a frequency of 0.00024 in 246768 control chromosomes, predominantly at a frequency of 0.0012 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 6 fold of the estimated maximal expected allele frequency for a pathogenic variant in DSP causing Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy phenotype (0.0002). c.8508_8519delATCTCGCTCCGG has been reported in the literature in at least 1 individual affected with decreased left ventricular ejection fraction (example, Carrick_2024). It was also observed in at least 1 healthy control individual (example, Kapplinger_2011). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 39011630, 36437915, 36212137, 25445213, 21636032). ClinVar contains an entry for this variant (Variation ID: 44975). Based on the evidence outlined above, the variant was classified as benign. |
CHEO Genetics Diagnostic Laboratory, |
RCV001186904 | SCV002043309 | likely benign | Cardiomyopathy | 2021-03-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002408516 | SCV002675433 | likely benign | Cardiovascular phenotype | 2018-09-07 | 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. |