ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg)

dbSNP: rs1060499795
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000454263 SCV001527130 uncertain significance Usher syndrome type 2C 2018-06-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
King Laboratory, University of Washington RCV000454263 SCV001976379 likely pathogenic Usher syndrome type 2C 2020-08-01 criteria provided, single submitter research Analysis of patient-derived RNA indicates that ADGRV1 c.10426+1G>A disrupts the donor splice site of ADGRV1 exon 49, leading to transcriptional loss of 209bp and a premature stop (Abu Rayyan 2020). The variant is homozygous in 3 Palestinian children with moderate to severe hearing loss from 3 different families. The variant is absent from 1300 Palestinian controls and absent from public databases.
Hereditary Research Laboratory, Bethlehem University RCV000454263 SCV000538092 pathogenic Usher syndrome type 2C 2016-06-04 no assertion criteria provided research congenital, moderate to severe

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