ClinVar Miner

Submissions for variant NM_019055.6(ROBO4):c.2092C>A (p.Leu698Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV004556012 SCV005045167 uncertain significance Aortic valve disease 3 2023-12-11 criteria provided, single submitter clinical testing The ROBO4 c.2092C>A (p.Leu698Met) variant, to our knowledge, has not been reported in the medical literature. The highest population minor allele frequency in the population database genome aggregation database (v.2.1.1) is 0.17% in the European non-Finnish population. Computational predictors suggest that the variant does not impact ROBO4 function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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