ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.1354C>A (p.Leu452Ile) (rs201593125)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514778 SCV000609888 uncertain significance not provided 2017-03-17 criteria provided, single submitter clinical testing
Invitae RCV000693318 SCV000821182 uncertain significance Immunodeficiency 23 2019-10-28 criteria provided, single submitter clinical testing This sequence change replaces leucine with isoleucine at codon 480 of the PGM3 protein (p.Leu480Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine. This variant is present in population databases (rs201593125, ExAC 0.06%). This variant has not been reported in the literature in individuals with PGM3-related disease. ClinVar contains an entry for this variant (Variation ID: 445475). 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, 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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