ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.4817C>T (p.Ala1606Val)

gnomAD frequency: 0.00003  dbSNP: rs771535517
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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 RCV001932429 SCV002135679 benign not provided 2023-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002550392 SCV003722751 likely benign Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004743612 SCV005345970 uncertain significance RAI1-related disorder 2024-03-13 no assertion criteria provided clinical testing The RAI1 c.4817C>T variant is predicted to result in the amino acid substitution p.Ala1606Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0044% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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