ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.690A>C (p.Glu230Asp)

gnomAD frequency: 0.00001  dbSNP: rs397517434
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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 RCV000039613 SCV000063302 uncertain significance not specified 2013-03-06 criteria provided, single submitter clinical testing The Glu230Asp variant in GPR98 has not been described in the literature nor prev iously reported by our laboratory. It has also not been identified in large Euro pean American and African American populations sequenced by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS/). Computational analyses (bioc hemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) sug gest that the Glu230Asp variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, additional info rmation is needed to fully assess the clinical significance of the Glu230Asp var iant.
Invitae RCV003688825 SCV004451605 likely benign not provided 2023-11-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003688825 SCV004562437 uncertain significance not provided 2023-08-25 criteria provided, single submitter clinical testing

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