Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000371429 | SCV000337244 | uncertain significance | not provided | 2015-12-17 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV001115985 | SCV001274003 | uncertain significance | Growth delay due to insulin-like growth factor I resistance | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Gene |
RCV000371429 | SCV001986014 | uncertain significance | not provided | 2019-10-25 | criteria provided, single submitter | clinical testing | Reported in heterozygous state in one patient with isolated craniosynostosis (Cunningham et al., 2011); A functional study conducted in a cell line derived from a patient harboring this variant, showed increased IRS1 and GSK3 phosphorylation; however additional studies are needed to validate the functional effect of this specific variant (Stamper et al., 2012); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 21204214, 23073384) |
| Invitae | RCV000371429 | SCV002484223 | likely benign | not provided | 2023-12-11 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002519154 | SCV003737476 | likely benign | Inborn genetic diseases | 2022-08-09 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |