ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.1327C>G (p.Leu443Val)

dbSNP: rs141509908
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652185 SCV000774053 uncertain significance Immunodeficiency 23 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 471 of the PGM3 protein (p.Leu471Val). This variant is present in population databases (rs141509908, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with PGM3-related conditions. ClinVar contains an entry for this variant (Variation ID: 541845). 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. 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.
Ambry Genetics RCV002531993 SCV003701181 uncertain significance Inborn genetic diseases 2022-07-12 criteria provided, single submitter clinical testing The c.1411C>G (p.L471V) alteration is located in exon 12 (coding exon 11) of the PGM3 gene. This alteration results from a C to G substitution at nucleotide position 1411, causing the leucine (L) at amino acid position 471 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.