ClinVar Miner

Submissions for variant NM_000875.5(IGF1R):c.1500G>A (p.Thr500=)

gnomAD frequency: 0.00022  dbSNP: rs370500527
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732827 SCV000860818 uncertain significance not provided 2018-05-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001120906 SCV001279426 uncertain significance Growth delay due to insulin-like growth factor I resistance 2017-04-28 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.
Invitae RCV000732827 SCV002446815 likely benign not provided 2024-01-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000732827 SCV004130975 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing IGF1R: BP4, BP7

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