ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.4532C>T (p.Pro1511Leu)

gnomAD frequency: 0.00004  dbSNP: rs548056226
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001947853 SCV002194640 benign not provided 2023-08-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004743649 SCV005347822 uncertain significance RAI1-related disorder 2024-06-12 no assertion criteria provided clinical testing The RAI1 c.4532C>T variant is predicted to result in the amino acid substitution p.Pro1511Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of Latino descent in gnomAD, which is likely too common for an undocumented disease-causing variant. Although we suspect that this variant may be benign, 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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