Submissions for variant NM_001184880.2(PCDH19):c.2417C>T (p.Ser806Phe)

gnomAD frequency: 0.00003  dbSNP: rs756871980

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001068796	SCV001233928	uncertain significance	Developmental and epileptic encephalopathy, 9	2023-04-18	criteria provided, single submitter	clinical testing	Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PCDH19 protein function. ClinVar contains an entry for this variant (Variation ID: 206346). This variant has not been reported in the literature in individuals affected with PCDH19-related conditions. This variant is present in population databases (rs756871980, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 806 of the PCDH19 protein (p.Ser806Phe). 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.
CeGaT Center for Human Genetics Tuebingen	RCV001092881	SCV001249606	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	PCDH19: BS2