ClinVar Miner

Submissions for variant NM_001127178.3(PIGG):c.352C>T (p.Arg118Ter)

gnomAD frequency: 0.00001  dbSNP: rs782124562
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001956417 SCV002245937 pathogenic Intellectual disability, autosomal recessive 53 2024-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg118*) in the PIGG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PIGG are known to be pathogenic (PMID: 26996948, 28581210, 28771251). This variant is present in population databases (rs782124562, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with PIGG-related conditions. ClinVar contains an entry for this variant (Variation ID: 1458529). For these reasons, this variant has been classified as Pathogenic.
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV001956417 SCV005865777 likely pathogenic Intellectual disability, autosomal recessive 53 2025-01-15 no assertion criteria provided clinical testing

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