ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.797A>G (p.Asp266Gly)

gnomAD frequency: 0.00001  dbSNP: rs1333618864
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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 RCV000642402 SCV000764072 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2017-12-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 266 of the PSTPIP1 protein (p.Asp266Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PSTPIP1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). 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.

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