Submissions for variant NM_000875.5(IGF1R):c.84G>A (p.Thr28=)

gnomAD frequency: 0.00013  dbSNP: rs372748482

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000597923	SCV000707570	uncertain significance	not provided	2017-04-11	criteria provided, single submitter	clinical testing
Invitae	RCV000597923	SCV001067530	likely benign	not provided	2023-03-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001115871	SCV001273886	uncertain significance	Growth delay due to insulin-like growth factor I resistance	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
PreventionGenetics, part of Exact Sciences	RCV003945424	SCV004761845	likely benign	IGF1R-related condition	2019-11-21	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000597923	SCV002036981	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000597923	SCV002038494	likely benign	not provided		no assertion criteria provided	clinical testing