ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.5698C>G (p.Pro1900Ala)

dbSNP: rs1039699590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001809248 SCV002059747 uncertain significance Smith-Magenis syndrome 2021-04-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869599 SCV002256483 uncertain significance not provided 2021-06-16 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals with RAI1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with alanine at codon 1900 of the RAI1 protein (p.Pro1900Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine.
PreventionGenetics, part of Exact Sciences RCV004743580 SCV005343860 uncertain significance RAI1-related disorder 2024-02-26 no assertion criteria provided clinical testing The RAI1 c.5698C>G variant is predicted to result in the amino acid substitution p.Pro1900Ala. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. 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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