ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1693G>A (p.Ala565Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003510008 SCV004315531 uncertain significance Developmental and epileptic encephalopathy, 9 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 565 of the PCDH19 protein (p.Ala565Thr). This variant is present in population databases (no rsID available, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with PCDH19-related conditions. 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 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 RCV004369410 SCV004998893 uncertain significance Inborn genetic diseases 2024-01-29 criteria provided, single submitter clinical testing The c.1693G>A (p.A565T) alteration is located in exon 1 (coding exon 1) of the PCDH19 gene. This alteration results from a G to A substitution at nucleotide position 1693, causing the alanine (A) at amino acid position 565 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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