Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001331812 | SCV001523939 | pathogenic | Pigmentary pallidal degeneration | 2019-09-27 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV001331812 | SCV002226873 | pathogenic | Pigmentary pallidal degeneration | 2023-02-11 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 3 of the PANK2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PANK2 are known to be pathogenic (PMID: 11479594, 12510040). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with PANK2-related conditions (PMID: 28708303; Invitae). ClinVar contains an entry for this variant (Variation ID: 1030294). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |