ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.1060C>T (p.Gln354Ter)

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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 RCV003612660 SCV004408256 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln354*) 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. 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 disrupt the consensus 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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