ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.1063C>G (p.His355Asp)

dbSNP: rs2128490958
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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 RCV002005497 SCV002258166 uncertain significance Immunodeficiency 23 2021-09-10 criteria provided, single submitter clinical testing 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. 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. 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). This sequence change replaces histidine with aspartic acid at codon 383 of the PGM3 protein (p.His383Asp). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and aspartic acid.

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