ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.5554G>A (p.Ala1852Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud RCV004794758 SCV005414495 uncertain significance Smith-Magenis syndrome 2024-11-18 criteria provided, single submitter clinical testing The variant NM_030665.4:c.5554G>A results in the substitution of alanine with threonine at position 1852 in the protein. Alanine is a small, non-polar amino acid, while threonine contains a hydroxyl group, which could potentially affect the protein's structure or function. Based on PM2 (absence from controls or databases), this variant is classified as uncertain significance

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