ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.28C>T (p.Leu10Phe)

gnomAD frequency: 0.00001  dbSNP: rs1215262242
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198787 SCV001369782 likely pathogenic PMM2-congenital disorder of glycosylation 2020-03-30 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM1,PM2,PP2,PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV001198787 SCV002203006 uncertain significance PMM2-congenital disorder of glycosylation 2022-01-27 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 10 of the PMM2 protein (p.Leu10Phe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PMM2-related conditions. ClinVar contains an entry for this variant (Variation ID: 931845). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PMM2 protein function. 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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