ClinVar Miner

Submissions for variant NM_019055.6(ROBO4):c.1702C>T (p.Arg568Ter)

gnomAD frequency: 0.00004  dbSNP: rs201492213
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000754496 SCV000804232 likely pathogenic Ascending tubular aorta aneurysm; Bicuspid aortic valve criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV003392516 SCV004121278 uncertain significance ROBO4-related disorder 2022-11-15 criteria provided, single submitter clinical testing The ROBO4 c.1702C>T variant is predicted to result in premature protein termination (p.Arg568*). This variant was reported in an individual with Bicuspid aortic valve & thoracic aortic aneurysm (Gould et al 2019. PubMed ID: 30455415). This variant is reported in 0.016% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-124761441-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796274 SCV005416132 uncertain significance Aortic valve disease 3 criteria provided, single submitter clinical testing PM2_Supporting+PS4_Supporting

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