ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.1116G>A (p.Ala372=)

gnomAD frequency: 0.00011  dbSNP: rs369835681
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127641 SCV000171220 benign not specified 2011-12-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001517287 SCV001725760 benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2024-01-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262744 SCV002542846 likely benign Autoinflammatory syndrome 2020-05-01 criteria provided, single submitter clinical testing

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