ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.11549A>G (p.Lys3850Arg)

dbSNP: rs1057524659
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441920 SCV000536182 uncertain significance not provided 2017-01-27 criteria provided, single submitter clinical testing The K3850R variant in the ADGRV1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The K3850R variant was not observed in approximately 5,900 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The K3850R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret K3850R as a variant of uncertain significance.

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