Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001180074 | SCV001344928 | uncertain significance | Cardiomyopathy | 2023-10-05 | criteria provided, single submitter | clinical testing | This missense variant replaces arginine with histidine at codon 907 of the DSP protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in at least one individual affected with dilated cardiomyopathy (PMID: 21859740, 26899768), and in an individual affected with arrhythmogenic cardiomyopathy who also carried a duplication of exons 8-10 in PKP2 gene (PMID: 29511324). This variant has been identified in 7/282718 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Invitae | RCV001875970 | SCV002109535 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2024-01-24 | criteria provided, single submitter | clinical testing |