Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003756615 | SCV004553898 | uncertain significance | Dyskeratosis congenita, autosomal dominant 6 | 2022-12-26 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with ACD-related conditions. This variant is present in population databases (rs371670166, gnomAD no frequency). This sequence change falls in intron 11 of the ACD gene. It does not directly change the encoded amino acid sequence of the ACD protein. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. |