ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.655C>T (p.Gln219Ter)

gnomAD frequency: 0.00003  dbSNP: rs751668240
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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 RCV000695390 SCV000823886 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2024-01-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln219*) 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with suspected primary immunodeficiency (PMID: 32888943). This variant is also known as c.850C>T (p.Gln284Ter). ClinVar contains an entry for this variant (Variation ID: 573665). 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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