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

dbSNP: rs1580609185

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	RCV001027716	SCV001190298	pathogenic	Usher syndrome type 2C	2019-08-08	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	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.