ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=)

dbSNP: rs1060499796
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
King Laboratory, University of Washington RCV000454318 SCV001976378 likely pathogenic Usher syndrome type 2C 2020-08-01 criteria provided, single submitter research Analysis of patient-derived RNA indicates that ADGRV1 c.2898+1G>A disrupts the donor splice site of exon 15, leading to transcriptional loss of exons 14-15 and of protein residues 852-966 in the calcium-binding domain of ADGRV1 (Abu Rayyan 2020). The variant is homozygous in 4 children with moderate to severe hearing loss from 2 Palestinian families. The variant is absent from 1300 Palestinian controls and absent from public databases.
Hereditary Research Laboratory, Bethlehem University RCV000454318 SCV000538093 pathogenic Usher syndrome type 2C 2016-06-04 no assertion criteria provided research congenital, moderate to severe

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