ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.839-16G>A

gnomAD frequency: 0.00004  dbSNP: rs776337082
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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 RCV002003681 SCV002269860 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-08-30 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1486562). This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. This variant is present in population databases (rs776337082, gnomAD 0.02%). This sequence change falls in intron 11 of the PSTPIP1 gene. It does not directly change the encoded amino acid sequence of the PSTPIP1 protein.

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