ClinVar Miner

Submissions for variant NM_001127178.3(PIGG):c.2769C>T (p.Tyr923=)

gnomAD frequency: 0.00012  dbSNP: rs148579497
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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 RCV001516837 SCV001725193 benign Intellectual disability, autosomal recessive 53 2025-01-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980039 SCV004786183 likely benign PIGG-related disorder 2019-10-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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