ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1164G>T (p.Leu388Phe)

gnomAD frequency: 0.00001  dbSNP: rs763059359
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188365 SCV000241977 uncertain significance not provided 2024-07-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000692886 SCV000820734 uncertain significance Developmental and epileptic encephalopathy, 9 2024-10-13 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 388 of the PCDH19 protein (p.Leu388Phe). This variant is present in population databases (rs763059359, gnomAD 0.003%). This missense change has been observed in individual(s) with PCDH19-related conditions (internal data). ClinVar contains an entry for this variant (Variation ID: 206328). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt PCDH19 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004955312 SCV005470256 uncertain significance Inborn genetic diseases 2024-11-13 criteria provided, single submitter clinical testing The c.1164G>T (p.L388F) alteration is located in exon 1 (coding exon 1) of the PCDH19 gene. This alteration results from a G to T substitution at nucleotide position 1164, causing the leucine (L) at amino acid position 388 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.