Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000812355 | SCV000952666 | likely pathogenic | Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 | 2019-03-28 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed to be homozygous in an individual with clinical features of Bardet-Biedl syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 6 of the ARL6 gene. It does not directly change the encoded amino acid sequence of the ARL6 protein. |