ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.2222C>T (p.Ser741Leu)

dbSNP: rs1335592289
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821586 SCV000962348 uncertain significance Developmental and epileptic encephalopathy, 9 2022-12-06 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) performed at Invitae indicates that this missense variant is not expected to disrupt PCDH19 protein function. ClinVar contains an entry for this variant (Variation ID: 663665). This missense change has been observed in individual(s) with clinical features of PCDH19-related conditions (PMID: 31139143). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 741 of the PCDH19 protein (p.Ser741Leu). 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.

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