ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.467A>G (p.Gln156Arg)

dbSNP: rs977107435
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001256029 SCV001432814 uncertain significance not provided 2019-12-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001256029 SCV002453106 likely benign not provided 2024-04-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004659449 SCV005163559 uncertain significance Inborn genetic diseases 2024-04-05 criteria provided, single submitter clinical testing The c.467A>G (p.Q156R) alteration is located in exon 3 (coding exon 1) of the RAI1 gene. This alteration results from a A to G substitution at nucleotide position 467, causing the glutamine (Q) at amino acid position 156 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004743373 SCV005342031 uncertain significance RAI1-related disorder 2024-04-16 no assertion criteria provided clinical testing The RAI1 c.467A>G variant is predicted to result in the amino acid substitution p.Gln156Arg. 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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