ClinVar Miner

Submissions for variant NM_004204.5(PIGQ):c.449del (p.Arg150fs)

dbSNP: rs2151044473
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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 RCV001953542 SCV002245828 pathogenic Epilepsy 2021-06-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with PIGQ-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg150Profs*20) 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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