ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.1120-9C>G

gnomAD frequency: 0.00002  dbSNP: rs747139033
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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 RCV000556330 SCV000642074 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-06-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. This variant is present in population databases (rs747139033, gnomAD 0.005%). This sequence change falls in intron 14 of the PSTPIP1 gene. It does not directly change the encoded amino acid sequence of the PSTPIP1 protein. ClinVar contains an entry for this variant (Variation ID: 466413). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.

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