ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys)

gnomAD frequency: 0.00021  dbSNP: rs199499672
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Total submissions: 6
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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 RCV000039662 SCV000063351 uncertain significance not specified 2018-01-25 criteria provided, single submitter clinical testing The p.Glu3215Lys variant in ADGRV1 has been previously reported by our laborator y in 2 individuals with hearing loss, one of whom also harbored a second ADGRV1 variant of uncertain significance (trans/cis not yet determined). The variant wa s also identified in 51/126478 European chromosomes by the Genome Aggregation Da tabase (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs199499672). However, t his frequency is not high enough to rule out a pathogenic role. Computational pr ediction tools and conservation analysis suggest that this variant may impact th e protein, though this information is not predictive enough to determine pathoge nicity. In summary, the clinical significance of the p.Glu32215Lys variant is un certain. ACMG/AMP Criteria applied: PP3.
Eurofins Ntd Llc (ga) RCV000725378 SCV000336471 uncertain significance not provided 2015-10-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765848 SCV000897244 uncertain significance Usher syndrome type 2C; Febrile seizures, familial, 4 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000725378 SCV001225455 likely benign not provided 2024-11-13 criteria provided, single submitter clinical testing
GeneDx RCV000725378 SCV001766210 uncertain significance not provided 2024-02-15 criteria provided, single submitter clinical testing Identified in the heterozygous state in a patient with epilepsy and cardiac conduction disorder in published literature (PMID: 29261713); Identified as a single heterozygous variant in a patient with panuveitis in published literature (PMID: 32707200); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29261713, 32707200)
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV004821263 SCV005442637 likely pathogenic Usher syndrome type 2C 2024-12-26 criteria provided, single submitter research The ADGRV1 c.9643G>A:p.(Glu3215Lys) heterozygous variant is very rare and predicted deleterious. This variant was classified as likely pathogenic by Deafness Variation Database, and according to ClinVar SCV000063351.5, it was detected in hearing impaired individuals. In our study, it was detected in an individual with sloping normal-to-severe HL, that carried another variant in USH1G,c.955A>G:p.(Arg319Gly), suggesting digenic inheritance.

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