Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704861 | SCV000233472 | likely benign | not provided | 2020-02-27 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000642312 | SCV000763981 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2023-10-06 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001183736 | SCV001349550 | likely benign | Cardiomyopathy | 2019-11-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003298229 | SCV003996709 | likely benign | Cardiovascular phenotype | 2023-06-14 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004700546 | SCV005202223 | likely benign | not specified | 2024-07-30 | criteria provided, single submitter | clinical testing | Variant summary: DSG2 c.3118G>A (p.Val1040Ile) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 7.2e-05 in 249444 control chromosomes, predominantly at a frequency of 0.001 within the East Asian subpopulation in the gnomAD database. The observed variant frequency within East Asian control individuals in the gnomAD database is approximately 4 fold of the estimated maximal expected allele frequency for a pathogenic variant in DSG2 causing Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy phenotype (0.00025). c.3118G>A has been reported in the literature in individuals affected with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy or sudden unexplained death (Wada_2017, Hata_2017). These report(s) do not provide unequivocal conclusions about association of the variant with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. 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: 27135274, 29178656). ClinVar contains an entry for this variant (Variation ID: 199794). Based on the evidence outlined above, the variant was classified as likely benign. |