ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.987G>A (p.Ala329=)

gnomAD frequency: 0.00002  dbSNP: rs750823506
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001476886 SCV001681105 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2022-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264344 SCV002542908 uncertain significance Autoinflammatory syndrome 2018-04-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930987 SCV004740883 likely benign PSTPIP1-related disorder 2023-12-27 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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