ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.1146G>A (p.Ala382=) (rs760234757)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001001205 SCV001091241 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2020-06-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001205 SCV001158365 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2019-04-19 criteria provided, single submitter clinical testing The PSTPIP1 c.1146G>A; p.Ala382Ala variant (rs760234757), to our knowledge, is not reported in the medical literature or gene-specific databases. The variant is reported in the general population with an overall allele frequency of 0.007% (20/278196 alleles) in the Genome Aggregation Database. This is a synonymous variant in a weakly conserved nucleotide, but computational analyses (Alamut v.2.11) predict that this variant may create a novel splicing acceptor site, which if utilized would create a frameshift. However, pathogenic variants in PSTPIP1 are most often missense variants, not loss of function variants as this variant would induce if the novel splicing acceptor site were utilized (Campbell 2016). Therefore, due to limited information, the clinical significance of this variant cannot be determined with certainty. REFERENCES: Campbell L et al. The Relationship between NALP3 and Autoinflammatory Syndromes. Int J Mol Sci. 2016 May 13;17(5). pii: E725.

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