ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.14496C>A (p.Asp4832Glu)

dbSNP: rs753803615
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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 RCV000605661 SCV000713835 uncertain significance not specified 2018-01-09 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Asp4832Glu va riant in ADGRV1 has not been previously reported in individuals with Usher syndr ome, but has been identified in 4/24110 of South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs7538036 15). Although this variant has been seen in the general population, its frequenc y is not high enough to rule out a pathogenic role. Computational prediction too ls and conservation analyses suggest that this variant may not impact the protei n, though this information is not predictive enough to rule out pathogenicity. I n summary, while the clinical significance of the p.Asp4832Glu variant is uncert ain, the variant is more likely to be benign. ACMG/AMP Criteria applied: BP4
Invitae RCV003767461 SCV004661770 likely benign not provided 2023-03-08 criteria provided, single submitter clinical testing

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