ClinVar Miner

Submissions for variant NM_004204.5(PIGQ):c.68G>A (p.Trp23Ter)

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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 RCV002791062 SCV003029536 pathogenic Epilepsy 2022-10-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with PIGQ-related conditions. This variant is present in population databases (rs750315914, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Trp23*) 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).

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