ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17722G>A (p.Ala5908Thr)

gnomAD frequency: 0.00001  dbSNP: rs560274484
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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 RCV000155654 SCV000205363 uncertain significance not specified 2013-05-07 criteria provided, single submitter clinical testing The Ala5908Thr 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, additional data is needed to determine the clinical significance of this variant.
Invitae RCV003764954 SCV004627040 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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