ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.3730_3732dup (p.Arg1244_Ser1245insArg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003118197 SCV003784718 uncertain significance not provided 2024-04-08 criteria provided, single submitter clinical testing This variant, c.3730_3732dup, results in the insertion of 1 amino acid(s) of the RAI1 protein (p.Arg1244dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs772190938, gnomAD 0.005%). 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: 2418088). 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.

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