ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.985+7G>A

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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 RCV002735546 SCV003013245 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-02-14 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the PSTPIP1 gene. It does not directly change the encoded amino acid sequence of the PSTPIP1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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