ClinVar Miner

Submissions for variant NM_057176.3(BSND):c.482C>T (p.Ala161Val) (rs369618892)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000216940 SCV000271527 uncertain significance not specified 2015-10-11 criteria provided, single submitter clinical testing The p.Ala161Val variant in BSND has not been previously reported in individuals with hearing loss or Bartter syndrome, but was identified in 6/121214 chromosome s by the Exome Aggregation Consortium (ExAC,; dbS NP rs369618892). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational pr ediction tools and conservation analyses suggest that the variant may not impact the protein; however this data is not sufficient to rule out pathogenicity. In summary, the clinical significance of the p.Ala161Val variant is uncertain.
Baylor Genetics RCV001331583 SCV001523651 uncertain significance Bartter disease type 4a 2019-08-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Natera, Inc. RCV001273326 SCV001456271 uncertain significance Bartter syndrome 2020-09-16 no assertion criteria provided clinical testing

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