ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.1014T>A (p.Ser338Arg) (rs1553121290)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537665 SCV000649251 uncertain significance Congenital disorder of glycosylation type 1t 2019-11-16 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 338 of the PGM1 protein (p.Ser338Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a PGM1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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