ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.3412C>T (p.Pro1138Ser)

dbSNP: rs778782448
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543874 SCV000640271 likely benign Developmental and epileptic encephalopathy, 9 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000603551 SCV000714644 likely benign not specified 2018-01-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002456127 SCV002616523 benign Inborn genetic diseases 2017-12-15 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 RCV003960319 SCV004770552 likely benign PCDH19-related condition 2023-05-15 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).

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