ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs774568856
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000812253 SCV000952561 uncertain significance Immunodeficiency 23 2021-08-31 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 missense change has been observed in individual(s) with congenital disorders of glycosylation (CDGs) (PMID: 28543917). It has also been observed to segregate with disease in related individuals. This variant is also known as p.Phe379Leu. 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.
Blueprint Genetics RCV001597218 SCV001832379 likely pathogenic not provided 2019-11-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000812253 SCV003814915 uncertain significance Immunodeficiency 23 2021-08-26 criteria provided, single submitter clinical testing

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