ClinVar Miner

Submissions for variant NM_004204.5(PIGQ):c.688C>T (p.Arg230Ter)

gnomAD frequency: 0.00001  dbSNP: rs1206309859
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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 RCV000700963 SCV000829742 pathogenic Epilepsy 2024-04-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg230*) in the PIGQ gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PIGQ are known to be pathogenic (PMID: 24463883, 25558065). This variant is present in population databases (no rsID available, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with PIGQ-related conditions. ClinVar contains an entry for this variant (Variation ID: 578064). For these reasons, this variant has been classified as Pathogenic.

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