Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000181271 | SCV000233560 | likely benign | not provided | 2022-05-09 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Color Diagnostics, |
RCV001189662 | SCV001356993 | likely benign | Cardiomyopathy | 2019-11-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001852266 | SCV002301531 | uncertain significance | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-11-17 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 2 of the DSP gene. It does not directly change the encoded amino acid sequence of the DSP protein. It affects a nucleotide within the consensus splice site. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has been observed in individual(s) with clinical features of DSP-related conditions (PMID: 34352074). ClinVar contains an entry for this variant (Variation ID: 199848). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |