ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.563C>G (p.Ser188Cys)

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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 RCV002932498 SCV003260358 uncertain significance Immunodeficiency 23 2022-05-31 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 216 of the PGM3 protein (p.Ser216Cys). This variant is present in population databases (rs757821755, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PGM3-related conditions. 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 tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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