ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.3590G>T (p.Gly1197Val)

gnomAD frequency: 0.00002  dbSNP: rs368975225
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194549 SCV000248665 uncertain significance not specified 2015-04-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857699 SCV002118023 uncertain significance not provided 2024-11-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1197 of the RAI1 protein (p.Gly1197Val). This variant is present in population databases (rs368975225, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with RAI1-related conditions. ClinVar contains an entry for this variant (Variation ID: 212009). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt RAI1 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.
New York Genome Center RCV002265678 SCV002548723 uncertain significance Smith-Magenis syndrome 2021-06-04 criteria provided, single submitter clinical testing

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