ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.2255A>G (p.Lys752Arg)

dbSNP: rs1452944576
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526406 SCV000640261 uncertain significance Developmental and epileptic encephalopathy, 9 2023-03-27 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: 465298). This variant has not been reported in the literature in individuals affected with PCDH19-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 752 of the PCDH19 protein (p.Lys752Arg). 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 RCV002526131 SCV003543492 uncertain significance Inborn genetic diseases 2021-12-06 criteria provided, single submitter clinical testing The c.2255A>G (p.K752R) alteration is located in exon 2 (coding exon 2) of the PCDH19 gene. This alteration results from a A to G substitution at nucleotide position 2255, causing the lysine (K) at amino acid position 752 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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