ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.1135T>C (p.Phe379Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812253 SCV000952561 uncertain significance Immunodeficiency 23 2018-10-12 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 407 of the PGM3 protein (p.Phe407Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs774568856, ExAC 0.003%). This variant has been observed to segregate with congenital disorders of glycosylation (CDGs) in a family (PMID: 28543917). This variant is also known as p.Phe379Leu in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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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