ClinVar Miner

Submissions for variant NM_000612.6(IGF2):c.100G>A (p.Gly34Ser)

dbSNP: rs1858937359
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
GeneDx RCV001546589 SCV001766129 pathogenic not provided 2025-02-04 criteria provided, single submitter clinical testing Identified as a paternally inherited variant in two unrelated patients with growth delay referred for genetic testing at GeneDx; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: Correia2024[article])
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002300547 SCV002598666 uncertain significance not specified 2022-09-09 criteria provided, single submitter clinical testing Variant summary: IGF2 c.100G>A (p.Gly34Ser) results in a non-conservative amino acid change located in the Insulin-like domain (IPR016179) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 249850 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.100G>A in individuals affected with Silver-Russell Syndrome 1 and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as uncertain significance.

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.