ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.997A>C (p.Thr333Pro)

gnomAD frequency: 0.00001  dbSNP: rs746898326
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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 RCV001905389 SCV002133291 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2021-07-04 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. This variant is present in population databases (rs746898326, ExAC 0.002%). This sequence change replaces threonine with proline at codon 333 of the PSTPIP1 protein (p.Thr333Pro). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and proline.

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