ClinVar Miner

Submissions for variant NM_000875.5(IGF1R):c.361G>A (p.Glu121Lys)

dbSNP: rs1555434208
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV000516173 SCV003841887 likely pathogenic Growth delay due to insulin-like growth factor I resistance 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Functional studies provide strong evidence of the variant having a damaging effect on the gene or gene product (PMID: 22130793). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.86). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with IGF1R related disorder . Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000516173 SCV000612185 protective Growth delay due to insulin-like growth factor I resistance 2017-12-12 no assertion criteria provided literature only

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