Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002317609 | SCV000851187 | pathogenic | Inborn genetic diseases | 2016-08-19 | criteria provided, single submitter | clinical testing | The c.994delG pathogenic mutation, located in coding exon 1 of the PCDH19 gene, results from a deletion of one nucleotide at position 994, causing a translational frameshift with a predicted alternate stop codon (p.V332Sfs*36). This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation. |
| Invitae | RCV000820009 | SCV000960701 | pathogenic | Developmental and epileptic encephalopathy, 9 | 2018-12-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val332Serfs*36) in the PCDH19 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PCDH19-related conditions. ClinVar contains an entry for this variant (Variation ID: 589901). Loss-of-function variants in PCDH19 are known to be pathogenic (PMID: 21053371). For these reasons, this variant has been classified as Pathogenic. |