ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) (rs368582085)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670926 SCV000795847 likely pathogenic Carbohydrate-deficient glycoprotein syndrome type I 2017-11-21 criteria provided, single submitter clinical testing
Invitae RCV000670926 SCV000950807 uncertain significance Carbohydrate-deficient glycoprotein syndrome type I 2018-08-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 120 of the PMM2 protein (p.Ile120Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. 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 variant has been reported in individuals affected with PMM2-CDG (PMID: 17308246, 28425223). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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