ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.3883C>T (p.Pro1295Ser)

gnomAD frequency: 0.00009  dbSNP: rs372337877
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330071 SCV001521665 uncertain significance Smith-Magenis syndrome 2019-03-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001863213 SCV002109154 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003405556 SCV004115038 uncertain significance RAI1-related disorder 2024-01-12 no assertion criteria provided clinical testing The RAI1 c.3883C>T variant is predicted to result in the amino acid substitution p.Pro1295Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.028% of alleles in individuals of African 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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