ClinVar Miner

Submissions for variant NM_019055.6(ROBO4):c.2758G>A (p.Gly920Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338179 SCV004047169 uncertain significance Aortic valve disease 3 criteria provided, single submitter clinical testing The amino acid Gly at position 920 is changed to a Ser changing protein sequence and it might alter its composition and physico-chemical properties. This variant has not been reported previously in affected individuals. In silico tools predict the variant to be tolerated. The residue is conserved across species. The amino acid change p.Gly920Ser in ROBO4 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates The variant is present in 0.01% individuals in the gnomAD database including one homozygous allele.. This variant is classified as uncertain significance as per ACMG guidelines.

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