ClinVar Miner

Submissions for variant NM_000875.5(IGF1R):c.1963G>A (p.Gly655Ser)

gnomAD frequency: 0.00010  dbSNP: rs143193096
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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) RCV000180533 SCV000232995 uncertain significance not provided 2014-08-01 criteria provided, single submitter clinical testing
Invitae RCV000180533 SCV003499297 uncertain significance not provided 2023-12-12 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 655 of the IGF1R protein (p.Gly655Ser). This variant is present in population databases (rs143193096, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with IGF1R-related conditions. ClinVar contains an entry for this variant (Variation ID: 199043). 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 with a negative predictive value of 80%. 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.
PreventionGenetics, part of Exact Sciences RCV003416101 SCV004108822 uncertain significance IGF1R-related condition 2023-08-02 criteria provided, single submitter clinical testing The IGF1R c.1963G>A variant is predicted to result in the amino acid substitution p.Gly655Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.064% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-99459327-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen RCV000180533 SCV004130977 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing IGF1R: PM2, BP4

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