ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val)

gnomAD frequency: 0.00071  dbSNP: rs200728466
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001706162 SCV000241942 benign not provided 2019-06-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23334464)
Eurofins Ntd Llc (ga) RCV000188330 SCV000342998 benign not specified 2016-07-09 criteria provided, single submitter clinical testing
Invitae RCV000606264 SCV001005456 likely benign Developmental and epileptic encephalopathy, 9 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381630 SCV002692857 benign Inborn genetic diseases 2019-05-22 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003937663 SCV004748935 likely benign PCDH19-related condition 2020-01-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000606264 SCV000734798 likely benign Developmental and epileptic encephalopathy, 9 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001706162 SCV001928965 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001706162 SCV001972649 likely benign not provided no assertion criteria provided clinical testing

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