ClinVar Miner

Submissions for variant NM_057176.3(BSND):c.851G>A (p.Gly284Asp)

gnomAD frequency: 0.00058  dbSNP: rs150426464
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Total submissions: 4
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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 RCV000039821 SCV000063512 uncertain significance not specified 2015-08-11 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Gly284Asp var iant in BSND has not been reported in individuals with hearing loss or Bartter s yndrome, but it has been identified in 0.2% (22/10390) African chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs15 0426464). One in vitro functional study provides some evidence that the p.Gly284 Asp variant may have a mild impact on protein function; however, this assay may not accurately represent biological function (Sile 2007). Computational predicti on tools and conservation analyses suggest that the p.Gly284Asp variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the p.Gly284Asp v ariant is uncertain, the frequency and computational data suggest that it is mor e likely to be benign.
Eurofins Ntd Llc (ga) RCV000727291 SCV000707297 uncertain significance not provided 2017-04-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000727291 SCV001058068 likely benign not provided 2025-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000727291 SCV001874080 uncertain significance not provided 2024-12-31 criteria provided, single submitter clinical testing Has been previously reported in a study to determine if partial loss of function variants are protective to the development of hypertension; has not been published in association with BSND-related disorders (PMID: 17954364); 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: 17954364)

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