ClinVar Miner

Submissions for variant NM_057176.3(BSND):c.35T>C (p.Ile12Thr) (rs121908144)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University RCV000785598 SCV000924173 uncertain significance Bartter disease type 4a criteria provided, single submitter research
Invitae RCV001214565 SCV001386250 pathogenic not provided 2019-07-05 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 12 of the BSND protein (p.Ile12Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs121908144, ExAC 0.02%). This variant has been observed to segregate with non-syndromic hearing loss in multiple families (PMID: 19646679, 21541222). ClinVar contains an entry for this variant (Variation ID: 4388). This variant has been reported to affect BSND protein function (PMID: 19646679). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004638 SCV000024812 pathogenic Sensorineural deafness with mild renal dysfunction 2009-08-01 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291206 SCV001479631 likely pathogenic Deafness, autosomal recessive no assertion criteria provided research

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