ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.1379C>T (p.Pro460Leu)

gnomAD frequency: 0.00001  dbSNP: rs749537955
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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 RCV001909714 SCV002187250 uncertain significance not provided 2022-11-01 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1407927). This variant has not been reported in the literature in individuals affected with RAI1-related conditions. This variant is present in population databases (rs749537955, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 460 of the RAI1 protein (p.Pro460Leu).

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