ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.247C>T (p.Gln83Ter)

dbSNP: rs377719165
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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 RCV001347988 SCV001542272 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2020-04-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PSTPIP1 cause disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant is present in population databases (rs377719165, ExAC 0.002%). This sequence change creates a premature translational stop signal (p.Gln83*) in the PSTPIP1 gene. It is expected to result in an absent or disrupted protein product.

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