Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000150583 | SCV000197854 | likely benign | not specified | 2014-07-23 | criteria provided, single submitter | clinical testing | Ala2805Ala in exon 24 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. It has been identified in 1/4406 African Ameri can chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington. edu/EVS/). Ala2805Ala in exon 24 of DSP (allele frequency = 1/4406) ** |
| Gene |
RCV001704082 | SCV000725401 | likely benign | not provided | 2018-05-23 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000622033 | SCV000737841 | likely benign | Cardiovascular phenotype | 2016-12-09 | 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. |
| Color Diagnostics, |
RCV000777985 | SCV000914090 | likely benign | Cardiomyopathy | 2018-10-16 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000864820 | SCV001005680 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2024-01-08 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000150583 | SCV001363287 | benign | not specified | 2019-04-22 | criteria provided, single submitter | clinical testing | Variant summary: DSP c.8415C>T alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4.8e-05 in 251058 control chromosomes, predominantly at a frequency of 0.00076 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 76 fold of the estimated maximal expected allele frequency for a pathogenic variant in DSP causing Arrhythmia phenotype (1e-05), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. The variant is cited in a publication, Patel_2014, with no additional information. Two ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cites the variant as likely benign. Based on the evidence outlined above, the variant was classified as benign. |
| Genetics and Genomics Program, |
RCV001293187 | SCV001434185 | likely benign | Primary dilated cardiomyopathy | criteria provided, single submitter | research |