ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.4129G>A (p.Gly1377Arg)

dbSNP: rs767828696
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001926370 SCV002199605 uncertain significance not provided 2024-02-15 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 1377 of the RAI1 protein (p.Gly1377Arg). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 1422959). 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 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.
Ambry Genetics RCV002561331 SCV003578437 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.4129G>A (p.G1377R) alteration is located in exon 3 (coding exon 1) of the RAI1 gene. This alteration results from a G to A substitution at nucleotide position 4129, causing the glycine (G) at amino acid position 1377 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003958419 SCV004771438 uncertain significance RAI1-related disorder 2023-11-30 no assertion criteria provided clinical testing The RAI1 c.4129G>A variant is predicted to result in the amino acid substitution p.Gly1377Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-17700391-G-A). 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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