ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.4183G>C (p.Gly1395Arg)

gnomAD frequency: 0.00002  dbSNP: rs1458340042
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318829 SCV000850245 uncertain significance Inborn genetic diseases 2021-12-14 criteria provided, single submitter clinical testing The c.4183G>C (p.G1395R) alteration is located in exon 3 (coding exon 1) of the RAI1 gene. This alteration results from a G to C substitution at nucleotide position 4183, causing the glycine (G) at amino acid position 1395 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002533036 SCV003465799 uncertain significance not provided 2024-10-21 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1395 of the RAI1 protein (p.Gly1395Arg). This variant is present in population databases (no rsID available, gnomAD no frequency). 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: 589418). 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.
PreventionGenetics, part of Exact Sciences RCV003411656 SCV004114714 uncertain significance RAI1-related disorder 2024-01-22 no assertion criteria provided clinical testing The RAI1 c.4183G>C variant is predicted to result in the amino acid substitution p.Gly1395Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in one out of ~31,400 alleles in gnomAD. 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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