ClinVar Miner

Submissions for variant NM_004204.5(PIGQ):c.241del (p.Leu81fs)

dbSNP: rs2151044300
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001782630 SCV002024632 likely pathogenic Developmental and epileptic encephalopathy, 77 2021-10-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003107851 SCV003782883 pathogenic Epilepsy 2022-01-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Leu81Trpfs*89) 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 variant has not been reported in the literature in individuals affected with PIGQ-related conditions. ClinVar contains an entry for this variant (Variation ID: 1324910).

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