ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.3G>A (p.Met1Ile)

dbSNP: rs2147543046
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001379045 SCV001576769 pathogenic Developmental and epileptic encephalopathy, 9 2023-10-03 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the PCDH19 mRNA. The next in-frame methionine is located at codon 106. This variant is not present in population databases (gnomAD no frequency). 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: 1067709). This variant disrupts a region of the PCDH19 protein in which other variant(s) (p.Leu81Arg) have been determined to be pathogenic (PMID: 21053371, 22946748, 27179713). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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