ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.799A>G (p.Ser267Gly) (rs145239831)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486467 SCV000565435 uncertain significance not specified 2016-10-19 criteria provided, single submitter clinical testing To our knowledge, the S267G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant. It was not observed at any significant frequency in approximately 6,300 individuals of European and African American ancestry by the NHLBI Exome Sequencing Project. The S267G 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. Additionally, a missense variant in a nearby residue (D266N) has been reported in the Human Gene Mutation Database in association with PAPA syndrome (Stenson et al., 2014), supporting the functional importance of this region of the protein. However, this substitution occurs at a position that is not conserved and 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 variant or a rare benign variant.
Invitae RCV000872600 SCV001014438 benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2020-11-20 criteria provided, single submitter clinical testing

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