ClinVar Miner

Submissions for variant NM_004204.5(PIGQ):c.619C>T (p.Arg207Ter)

gnomAD frequency: 0.00002  dbSNP: rs730882240
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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 RCV002516438 SCV003268813 pathogenic Epilepsy 2024-12-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg207*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of PIGQ-congenital disorder of glycosylation (PMID: 25558065). ClinVar contains an entry for this variant (Variation ID: 183339). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000162174 SCV000196460 likely pathogenic Global developmental delay; Optic atrophy; Intractable seizure 2014-12-01 no assertion criteria provided research
OMIM RCV000850139 SCV000992303 pathogenic Developmental and epileptic encephalopathy, 77 2015-01-13 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000850139 SCV001469188 likely pathogenic Developmental and epileptic encephalopathy, 77 2020-09-10 no assertion criteria provided clinical testing

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