ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.4094C>A (p.Ala1365Asp)

dbSNP: rs397517430
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Total submissions: 1
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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 RCV000039579 SCV000063268 uncertain significance not specified 2012-08-14 criteria provided, single submitter clinical testing The Ala1365Asp variant in GPR98 has not been reported in the literature nor prev iously identified by our laboratory. Computational analyses (biochemical amino a cid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide str ong support for or against an impact to the protein. In summary, the clinical si gnificance of this variant cannot be determined with certainty.

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