Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000819483 | SCV000960147 | pathogenic | Reticular dysgenesis | 2022-08-16 | criteria provided, single submitter | clinical testing | This variant has been observed in individual(s) with reticular dysgenesis (PMID: 32532877). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 3 of the AK2 gene. It does not directly change the encoded amino acid sequence of the AK2 protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product. ClinVar contains an entry for this variant (Variation ID: 661953). For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 3, but is expected to preserve the integrity of the reading-frame (PMID: 32532877). |
Ambry Genetics | RCV000819483 | SCV001244679 | pathogenic | Reticular dysgenesis | 2019-04-10 | criteria provided, single submitter | clinical testing |