Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001546589 | SCV001766129 | pathogenic | not provided | 2019-12-12 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Identified as paternally inherited in two unrelated patients with growth retardation referred for genetic testing at GeneDx |
Women's Health and Genetics/Laboratory Corporation of America, |
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. |