Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000029677 | SCV000052329 | benign | not specified | 2019-09-16 | criteria provided, single submitter | clinical testing | Variant summary: DSP c.1702-18C>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 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 0.0013 in 251114 control chromosomes, predominantly at a frequency of 0.019 within the African or African-American subpopulation in the gnomAD database, including 5 homozygotes. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 760-folds over the estimated maximal expected allele frequency for a pathogenic variant in DSP causing Cardiomyopathy phenotype (2.5e-05), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. To our knowledge, no occurrence of c.1702-18C>T in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign. |
ARUP Laboratories, |
RCV001636607 | SCV001472677 | benign | not provided | 2023-03-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001636607 | SCV001848999 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002054491 | SCV002414696 | benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000029677 | SCV001917156 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000029677 | SCV001966535 | benign | not specified | no assertion criteria provided | clinical testing |