ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.9918A>G (p.Ile3306Met)

gnomAD frequency: 0.00006  dbSNP: rs1264693693
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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 RCV000601339 SCV000731758 uncertain significance not specified 2017-07-13 criteria provided, single submitter clinical testing The p.Gln257Arg variant in BSND has not been previously reported in individuals with hearing loss, but has been reported in 21/34412 Latino chromosomes by the G enome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs19 9696535). Although this variant has been seen in the general population, its fre quency is not high enough to rule out a pathogenic role. Computational predictio n tools and conservation analyses suggest that this variant may not impact the p rotein, though this information is not predictive enough to rule out pathogenici ty. In summary, the clinical significance of the p.Gln257Arg variant is uncertai n.
Invitae RCV001860343 SCV002252282 likely benign not provided 2023-12-21 criteria provided, single submitter clinical testing

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