ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.535C>T (p.Gln179Ter)

dbSNP: rs867813339
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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 RCV001365101 SCV001561344 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2021-12-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. 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: 1056295). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln179*) in the PSTPIP1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PSTPIP1 cause disease.

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