ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1804C>T (p.Arg602Ter)

dbSNP: rs1928365677
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001211233 SCV001382760 pathogenic Developmental and epileptic encephalopathy, 9 2022-06-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 941449). This premature translational stop signal has been observed in individual(s) with early-onset epilepsy (PMID: 22267240, 22946748). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg602*) in the PCDH19 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCDH19 are known to be pathogenic (PMID: 21053371).
Fulgent Genetics, Fulgent Genetics RCV001211233 SCV002794345 pathogenic Developmental and epileptic encephalopathy, 9 2022-01-03 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV001211233 SCV002820111 pathogenic Developmental and epileptic encephalopathy, 9 criteria provided, single submitter clinical testing The stop gained p.R602* in PCDH19 (NM_001184880.2) has been reported previously in affected individuals (Depienne C et al,Marini C et al). The variant has been submitted to ClinVar as Pathogenic.The p.R602* variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants are known to be disease causing. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV005054344 SCV005688577 pathogenic not provided 2024-08-01 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30287595, 30451291, 31714027, 36801247, 22267240)

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