ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.2763_2764del (p.Glu923fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002703015 SCV003564197 pathogenic Inborn genetic diseases 2021-05-16 criteria provided, single submitter clinical testing The c.2763_2764delAG (p.E923Vfs*20) alteration, located in exon 3 (coding exon 1) of the RAI1 gene, consists of a deletion of 2 nucleotides from position 2763 to 2764, causing a translational frameshift with a predicted alternate stop codon after 20 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from the Genome Aggregation Database (gnomAD), the RAI1 c.2763_2764delAG alteration was not observed, with coverage at this position. Based on the available evidence, this alteration is classified as pathogenic.
Baylor Genetics RCV003333235 SCV004041426 likely pathogenic Smith-Magenis syndrome 2024-01-21 criteria provided, single submitter clinical testing

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