ClinVar Miner

Submissions for variant NM_015178.3(RHOBTB2):c.1376A>G (p.Asp459Gly)

dbSNP: rs1811011518
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001200302 SCV001371223 uncertain significance not provided 2020-04-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001200302 SCV001447384 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
3billion RCV001809992 SCV002058969 uncertain significance Developmental and epileptic encephalopathy, 64 2022-01-03 criteria provided, single submitter clinical testing Same nucleotide change resulting in same amino acid change has been previously reported to be associated with RHOBTB2 related disorder (ClinVar ID: VCV000932476, PS1_P). In silico tool predictions suggest damaging effect of the variant on gene or gene product (3CNET: 0.983, PP3_P). A missense variant is a common mechanism associated with Epileptic encephalopathy (PP2_P). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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