ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.1505C>T (p.Ala502Val)

gnomAD frequency: 0.00002  dbSNP: rs367826825
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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 RCV000039532 SCV000063221 uncertain significance not specified 2012-06-26 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ala502Val varia nt in GPR98 has not been reported in the literature nor previously identified by our laboratory but has been identified in 1/6702 (0.01%) European American chro mosomes from a broad, though clinically unspecified population (NHLBI Exome Sequ encing Project; http://evs.gs.washington.edu/EVS). Computational analyses (bioch emical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) sugg est that the Ala502Val variant may not impact the protein, though this informati on is not predictive enough to rule out pathogenicity. The presence of this vari ant in an individual with another likely explanation for hearing loss decreases the likelihood that the Ala502Val variant is pathogenic. In summary, the clinica l significance of this variant cannot be determined with certainty; however base d upon the computation predictions, presence in the general population and alter nate explanation for hearing loss, we would lean towards a more likely benign ro le.
Genetic Services Laboratory, University of Chicago RCV000039532 SCV000247501 uncertain significance not specified 2015-07-15 criteria provided, single submitter clinical testing
Invitae RCV002513547 SCV002940769 likely benign not provided 2023-08-28 criteria provided, single submitter clinical testing

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