ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.510C>A (p.Asn170Lys)

dbSNP: rs2128498553
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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 RCV002046814 SCV002117004 uncertain significance Immunodeficiency 23 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 198 of the PGM3 protein (p.Asn198Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. 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. This variant has not been reported in the literature in individuals affected with PGM3-related conditions. This variant is not present in population databases (ExAC no frequency).

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