ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.4681C>T (p.Arg1561Ter)

dbSNP: rs750728463
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV001249669 SCV001423675 pathogenic Smith-Magenis syndrome 2017-11-17 criteria provided, single submitter clinical testing [ACMG/AMP: PVS1, PM2, PP3] This alteration is a null variant in a gene where LOF is a known mechanism of disease [PVS1], is absent from or rarely observed in large-scale population databases [PM2], is predicted to be damaging by multiple functional prediction tools [PP3].
PreventionGenetics, part of Exact Sciences RCV003393922 SCV004119663 likely pathogenic RAI1-related disorder 2023-05-05 criteria provided, single submitter clinical testing The RAI1 c.4681C>T variant is predicted to result in premature protein termination (p.Arg1561*). This variant was reported in an individual with Smith-Magenis syndrome (Miller et al 2020. PubMed ID: 32371413). This variant is reported in 0.00088% of alleles in individuals of European (non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-17700943-C-T). Nonsense variants in RAI1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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