ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.403AAG[1] (p.Lys136del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003612798 SCV004487272 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-01-18 criteria provided, single submitter clinical testing This variant, c.406_408del, results in the deletion of 1 amino acid(s) of the PSTPIP1 protein (p.Lys136del), but otherwise preserves the integrity of the reading frame. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.001%).

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