ClinVar Miner

Submissions for variant NM_004204.5(PIGQ):c.211C>T (p.Gln71Ter)

dbSNP: rs1341033162
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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 RCV001382377 SCV001581127 pathogenic Epilepsy 2024-03-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln71*) 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: 1070292). For these reasons, this variant has been classified as Pathogenic.

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