ClinVar Miner

Submissions for variant NM_057176.3(BSND):c.64G>A (p.Gly22Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill RCV001374612 SCV001571458 uncertain significance Bartter disease type 4a 2020-12-01 criteria provided, single submitter research The BSND c.64G>A (p.Gly22Ser) missense variant alters a single amino acid in exon 1 of 4 of the encoded protein . The p.Gly22Ser variant has not been previously reported in patients with Bartter syndrome in the scientific literature. This is a rare variant in the human population and is observed in the Genome Aggregation Database (gnomAD) with a minor allele frequency of 0.0008% (2/251,430 alleles) in all populations. Computational prediction tools and conservation analysis predict a deleterious impact to protein function. This variant was found in trans with a pathogenic BSND variant in an individual with hearing loss. This variant is considered a variant of uncertain significance.

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