ClinVar Miner

Submissions for variant NM_173560.4(RFX6):c.143C>T (p.Ala48Val)

dbSNP: rs200522460
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV001174492 SCV001337631 likely benign Monogenic diabetes 2018-11-21 criteria provided, single submitter research ACMG criteria: BP4 (REVEL 0.056 + 10 predictors), BP1 (heterozygous LOF variants in RFX6 associated with reduced penetrance MODY: PMID: 29026101, majority of variants causing M-R syndrome are also LOF)= likely benign
GeneDx RCV004800710 SCV005421138 uncertain significance not provided 2024-06-04 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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