ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.479G>A (p.Ser160Asn)

gnomAD frequency: 0.00002  dbSNP: rs794726899
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173242 SCV000224338 uncertain significance not provided 2014-06-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001317304 SCV001507961 uncertain significance Developmental and epileptic encephalopathy, 9 2024-02-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 160 of the PCDH19 protein (p.Ser160Asn). This variant is present in population databases (rs794726899, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with PCDH19-related conditions. ClinVar contains an entry for this variant (Variation ID: 193195). 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 RCV002516580 SCV003586223 uncertain significance Inborn genetic diseases 2021-10-29 criteria provided, single submitter clinical testing The c.479G>A (p.S160N) 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 479, causing the serine (S) at amino acid position 160 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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