ClinVar Miner

Submissions for variant NM_000875.5(IGF1R):c.850A>T (p.Asn284Tyr)

gnomAD frequency: 0.00013  dbSNP: rs144675711
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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) RCV000598254 SCV000704927 uncertain significance not provided 2017-01-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV001331403 SCV001523436 uncertain significance Growth delay due to insulin-like growth factor I resistance 2019-12-04 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV000598254 SCV004324545 uncertain significance not provided 2023-06-25 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt IGF1R protein function. ClinVar contains an entry for this variant (Variation ID: 499440). This variant has not been reported in the literature in individuals affected with IGF1R-related conditions. This variant is present in population databases (rs144675711, gnomAD 0.02%). This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 284 of the IGF1R protein (p.Asn284Tyr).
PreventionGenetics, part of Exact Sciences RCV003900323 SCV004715342 uncertain significance IGF1R-related condition 2023-10-27 criteria provided, single submitter clinical testing The IGF1R c.850A>T variant is predicted to result in the amino acid substitution p.Asn284Tyr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-99434763-A-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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