Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002317645 | SCV000851278 | pathogenic | Inborn genetic diseases | 2016-10-05 | criteria provided, single submitter | clinical testing | The p.Y166* pathogenic mutation (also known as c.498C>A), located in coding exon 1 of the PCDH19 gene, results from a C to A substitution at nucleotide position 498. This changes the amino acid from a tyrosine to a stop codon within coding exon 1. p.Y166* resulting from c.497dupA (reported as c.497_498insA) has been identified in a Japanese female with epilepsy (Higurashi N et al. Epilepsy Res., 2013 Sep;106:191-9). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Mendelics | RCV000990909 | SCV001141962 | pathogenic | Developmental and epileptic encephalopathy, 9 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002279498 | SCV002567380 | pathogenic | not provided | 2022-08-16 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23712037, 32425876, 31928905) |