Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000011548 | SCV001419215 | pathogenic | Syndromic X-linked intellectual disability Hedera type | 2022-12-20 | criteria provided, single submitter | clinical testing | This variant has been observed in individual(s) with clinical features of ATP6AP2-related conditions (PMID: 15746149). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. Experimental studies have shown that this variant affects ATP6AP2 function (PMID: 15746149). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 10801). This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 107 of the ATP6AP2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ATP6AP2 protein. |
| OMIM | RCV000011548 | SCV000031780 | pathogenic | Syndromic X-linked intellectual disability Hedera type | 2005-04-15 | no assertion criteria provided | literature only |