ClinVar Miner

Submissions for variant NM_000875.5(IGF1R):c.2815G>A (p.Ala939Thr)

gnomAD frequency: 0.00004  dbSNP: rs755569322
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729621 SCV000857296 uncertain significance not provided 2017-10-23 criteria provided, single submitter clinical testing
Invitae RCV000729621 SCV003492360 uncertain significance not provided 2023-01-24 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: 594355). This variant has not been reported in the literature in individuals affected with IGF1R-related conditions. This variant is present in population databases (rs755569322, gnomAD 0.007%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 939 of the IGF1R protein (p.Ala939Thr).

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