ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.854_879del (p.Gln285fs)

dbSNP: rs2152689594
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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 RCV001863518 SCV002108762 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2021-01-18 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. This variant has not been reported in the literature in individuals with PSTPIP1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln285Profs*49) 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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