Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124830 | SCV000168269 | benign | not specified | 2014-02-11 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Laboratory for Molecular Medicine, |
RCV000124830 | SCV000270173 | likely benign | not specified | 2015-08-24 | criteria provided, single submitter | clinical testing | p.Ser2578Ser in exon 24 of DSP: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.2% (24/10396) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs28763970). |
Illumina Laboratory Services, |
RCV000339026 | SCV000465214 | likely benign | Epidermolysis bullosa simplex due to plakophilin deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000391733 | SCV000465215 | likely benign | Woolly hair-skin fragility syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000309573 | SCV000465216 | likely benign | Arrhythmogenic right ventricular cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000348027 | SCV000465217 | likely benign | Lethal acantholytic epidermolysis bullosa | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086040 | SCV000555759 | benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000587701 | SCV000698446 | benign | not provided | 2016-12-12 | criteria provided, single submitter | clinical testing | Variant summary: The DSP c.7734C>T (p.Ser2578Ser) variant causes a synonymous change involving a non-conserved nucleotide, which 4/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts alterations to ESE binding, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 26/121388 (1/4668), predominantly in the African cohort, 24/10396 (1/433), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic DSP variant of 1/100,000. Therefore, suggesting that the variant of interest is a common polymorphism found in population(s) of African origin. The variant of interest has not been, to our knowledge, reported in affected individuals via publications. Multiple clinical diagnostic laboratories/databases cite the variant as "benign/likely benign." Therefore, the variant of interest has been classified as Benign. |
Ambry Genetics | RCV000620556 | SCV000736638 | likely benign | Cardiovascular phenotype | 2016-07-15 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000769242 | SCV000900618 | benign | Cardiomyopathy | 2018-05-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000769242 | SCV001339605 | benign | Cardiomyopathy | 2018-11-27 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000587701 | SCV002049938 | likely benign | not provided | 2020-10-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000587701 | SCV004163056 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | DSP: BP4, BP7 |
Prevention |
RCV003965046 | SCV004778431 | likely benign | DSP-related condition | 2022-08-11 | 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). |
Clinical Genetics, |
RCV000124830 | SCV001924550 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000587701 | SCV001972551 | likely benign | not provided | no assertion criteria provided | clinical testing |