ClinVar Miner

Submissions for variant NM_001127178.3(PIGG):c.998G>A (p.Ser333Asn)

gnomAD frequency: 0.00122  dbSNP: rs185712951
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000653432 SCV000775311 likely benign Intellectual disability, autosomal recessive 53 2025-02-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV000653432 SCV001529541 uncertain significance Intellectual disability, autosomal recessive 53 2018-03-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001797119 SCV002038607 likely benign not provided 2021-06-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533)
PreventionGenetics, part of Exact Sciences RCV003945678 SCV004765219 likely benign PIGG-related disorder 2023-04-27 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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