ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.4148A>G (p.Tyr1383Cys) (rs1580609185)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV001192972 SCV001361466 uncertain significance not specified 2019-11-13 criteria provided, single submitter clinical testing Variant summary: ADGRV1 (also known as GPR98) c.4148A>G (p.Tyr1383Cys) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 246212 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.4148A>G in individuals affected with ADGRV1-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001027716 SCV001190298 pathogenic Usher syndrome, type 2C 2019-08-08 no assertion criteria provided clinical testing

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