ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.796G>A (p.Asp266Asn)

dbSNP: rs104895418
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000084064 SCV001039550 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001545655 SCV001765031 likely benign not provided 2019-08-26 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 19584923, 23426477)
PreventionGenetics, part of Exact Sciences RCV003398691 SCV004120254 uncertain significance PSTPIP1-related condition 2023-02-20 criteria provided, single submitter clinical testing The PSTPIP1 c.796G>A variant is predicted to result in the amino acid substitution p.Asp266Asn. This variant has been reported to be associated with PAPA syndrome (Waite et al. 2009. PubMed ID: 19584923), however in silico analyses suggest this variant does not impact protein function. This variant is reported in 0.075% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-77324693-G-A), which may be too common to be causative. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084064 SCV000116187 not provided Pyogenic arthritis-pyoderma gangrenosum-acne syndrome no assertion provided not provided

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