ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.854G>A (p.Arg285His)

gnomAD frequency: 0.00004  dbSNP: rs397517439
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Total submissions: 2
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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 RCV000039647 SCV000063336 uncertain significance not specified 2012-08-29 criteria provided, single submitter clinical testing The Arg285His variant in GPR98 has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide stro ng support for or against an impact to the protein. In summary, additional data is needed to determine the clinical significance of this variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001852826 SCV002247689 likely benign not provided 2024-10-23 criteria provided, single submitter clinical testing

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