ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.83G>A (p.Arg28Gln)

gnomAD frequency: 0.00001  dbSNP: rs750445188
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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 RCV001931287 SCV002197979 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2021-09-09 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces arginine with glutamine at codon 28 of the PSTPIP1 protein (p.Arg28Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine.

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