ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.3478C>T (p.Arg1160Trp)

gnomAD frequency: 0.00001  dbSNP: rs761044841
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001879752 SCV002257911 uncertain significance not provided 2024-07-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1160 of the RAI1 protein (p.Arg1160Trp). This variant is present in population databases (rs761044841, gnomAD 0.002%). 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: 972934). 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 expected to disrupt RAI1 protein function with a positive 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.
GenomeConnect, ClinGen RCV001249224 SCV001423158 not provided Smith-Magenis syndrome no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 03-12-2018 by Lab or GTR ID 239772. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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