ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.13765G>A (p.Val4589Met)

gnomAD frequency: 0.00003  dbSNP: rs375258567
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000150785 SCV000198286 likely benign not specified 2013-11-22 criteria provided, single submitter clinical testing Val4589Met in exon 68 of GPR98: This variant is not expected to have clinical si gnificance because the valine (Val) residue at position 4589 is poorly conserve d across species, with several species (pig, cow, and hedgehog) having a methion ine (Met) at this position. In addition, computational tools predict that the va riant may not impact the protein.
Invitae RCV001048288 SCV001212283 uncertain significance not provided 2021-11-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 4589 of the ADGRV1 protein (p.Val4589Met). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 163616). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001048288 SCV002097472 uncertain significance not provided 2022-02-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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