ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.968T>C (p.Ile323Thr)

gnomAD frequency: 0.00002  dbSNP: rs757910491
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Total submissions: 2
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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 RCV000606227 SCV000713821 uncertain significance not specified 2018-01-24 criteria provided, single submitter clinical testing The p.Ile323Thr variant in ADGRV1 has not been previously reported in individual s with hearing loss, but has been identified in 2/24018 African chromosomes and 2/126614 European chromosomes by the Genome Aggregation Database (gnomAD, http:/ /gnomad.broadinstitute.org; dbSNP rs757910491). Although this variant has been s een in the general population, its frequency is not high enough to rule out a pa thogenic role. Computational prediction tools and conservation analysis suggest that the p.Ile323Thr variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical si gnificance of the p.Ile323Thr variant is uncertain. ACMG/AMP Criteria applied: P M2; BP4.
Invitae RCV003698799 SCV004471593 likely benign not provided 2023-09-08 criteria provided, single submitter clinical testing

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