ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.37T>G (p.Cys13Gly) (rs376128040)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000231124 SCV000291948 uncertain significance not provided 2014-03-04 criteria provided, single submitter clinical testing The C13G variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The C13G variant was not observed at a significant frequency in individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The C13G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs within the conserved FCH domain. However, the pathogenicity of missense changes in this region of the PSTPIP1 protein is unclear, as all currently known mutations associated with PAPA syndrome have been identified in the coiled-coil domain region. In silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.
Invitae RCV001514746 SCV001722665 benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2020-09-24 criteria provided, single submitter clinical testing

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