ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.792C>T (p.Asp264=)

gnomAD frequency: 0.00002  dbSNP: rs1224633016
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602610 SCV000724387 likely benign not specified 2017-11-02 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 RCV002531586 SCV003013704 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-08-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003886420 SCV004702299 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing PSTPIP1: BP4, BP7

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