ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.770A>G (p.Glu257Gly)

dbSNP: rs2152689087
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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 RCV002040005 SCV002110031 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2021-05-10 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with glycine at codon 257 of the PSTPIP1 protein (p.Glu257Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant has not been reported in the literature in individuals with PSTPIP1-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.

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