ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) (rs201713027)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000188361 SCV000224339 benign not specified 2017-04-12 criteria provided, single submitter clinical testing
GeneDx RCV000762660 SCV000241973 benign not provided 2019-05-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23334464)
Genetic Services Laboratory, University of Chicago RCV000188361 SCV000248451 uncertain significance not specified 2015-06-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000188361 SCV000614421 likely benign not specified 2017-03-28 criteria provided, single submitter clinical testing
Invitae RCV001080644 SCV000640276 likely benign Early infantile epileptic encephalopathy 9 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720106 SCV000850983 uncertain significance History of neurodevelopmental disorder 2016-04-14 criteria provided, single submitter clinical testing The p.V257L variant (also known as c.769G>C), located in coding exon 1 of the PCDH19 gene, results from a G to C substitution at nucleotide position 769. The valine at codon 257 is replaced by leucine, an amino acid with highly similar properties. This variant was previously reported in the SNPDatabase as rs201713027. Based on data from the NHLBI Exome Sequencing Project (ESP), the C allele was present in 2out of 4041 (0.05%)total female alleles studied. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis.Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762660 SCV000892994 likely benign not provided 2018-04-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000762660 SCV001928359 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000762660 SCV001953658 likely benign not provided no assertion criteria provided clinical testing

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