Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000457923 | SCV000543261 | benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-10-23 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588384 | SCV000698421 | likely benign | not provided | 2017-01-03 | criteria provided, single submitter | clinical testing | Variant summary: The DSP c.2037A>G (p.Ile679Met) variant involves the alteration of a non-conserved nucleotide, which 3/3 in silico tools (SNPs&GO and MutationTaster not captured due to low reliability index and p-value, respectively) predict a benign outcome, 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 5/121348 (1/24271), predominantly in the African cohort, 5/10394 (1/2079), which exceeds the estimated maximal expected allele frequency for a pathogenic DSP variant of 1/40000. Therefore, suggesting this is likely a benign polymorphism found primarily in population(s) of African origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Therefore, the variant of interest has been classified as "likely benign," until additional information becomes available (ie, clinical and functional studies). |
Color Diagnostics, |
RCV001524121 | SCV001733890 | likely benign | Cardiomyopathy | 2020-11-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418355 | SCV002723018 | likely benign | Cardiovascular phenotype | 2019-08-02 | 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. |
Gene |
RCV000588384 | SCV003798665 | uncertain significance | not provided | 2022-12-27 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function |