ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.3895G>A (p.Asp1299Asn)

gnomAD frequency: 0.00006  dbSNP: rs750911924
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503310 SCV000596710 uncertain significance not specified 2016-07-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765338 SCV000896601 uncertain significance Smith-Magenis syndrome 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524280 SCV003474572 benign not provided 2024-11-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003403173 SCV004119391 uncertain significance RAI1-related disorder 2023-08-14 criteria provided, single submitter clinical testing The RAI1 c.3895G>A variant is predicted to result in the amino acid substitution p.Asp1299Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-17700157-G-A). 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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