ClinVar Miner

Submissions for variant NM_057176.3(BSND):c.10G>A (p.Glu4Lys) (rs121908145)

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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, Partners HealthCare Personalized Medicine RCV000825872 SCV000967357 uncertain significance not specified 2019-03-01 criteria provided, single submitter clinical testing The p.Glu4Lys variant in BSND has not been previously reported in individuals with hearing loss or Bartter syndrome but has been identified in 0.05% (11/18394) of East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.
Illumina Clinical Services Laboratory,Illumina RCV001100682 SCV001257212 uncertain significance Bartter disease type 4a 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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