ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter)

dbSNP: rs796052837
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Total submissions: 3
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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
GeneDx 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)

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