ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.473C>G (p.Thr158Arg)

dbSNP: rs760200977
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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 RCV002023573 SCV002303370 uncertain significance Immunodeficiency 23 2021-03-11 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 C15"). This variant has not been reported in the literature in individuals with PGM3-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 threonine with arginine at codon 186 of the PGM3 protein (p.Thr186Arg). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and arginine.

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