ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.3401C>T (p.Pro1134Leu)

gnomAD frequency: 0.00001  dbSNP: rs2032247780
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001990276 SCV002247699 benign not provided 2023-06-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003130642 SCV003813699 uncertain significance Smith-Magenis syndrome 2023-02-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004744185 SCV005366421 uncertain significance RAI1-related disorder 2024-08-19 no assertion criteria provided clinical testing The RAI1 c.3401C>T variant is predicted to result in the amino acid substitution p.Pro1134Leu. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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