ClinVar Miner

Submissions for variant NM_015178.3(RHOBTB2):c.802G>A (p.Val268Ile)

gnomAD frequency: 0.00012  dbSNP: rs140190863
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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 RCV001881706 SCV002152363 benign not provided 2023-08-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892924 SCV004710287 uncertain significance RHOBTB2-related disorder 2024-01-09 no assertion criteria provided clinical testing The RHOBTB2 c.868G>A variant is predicted to result in the amino acid substitution p.Val290Ile. 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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