ClinVar Miner

Submissions for variant NM_057176.3(BSND):c.10G>T (p.Glu4Ter)

dbSNP: rs121908145
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375195 SCV001571849 pathogenic Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PVS1_Strong, PS1_Moderate, PM2_Moderate
Labcorp Genetics (formerly Invitae), Labcorp RCV001851648 SCV002215337 pathogenic not provided 2023-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu4*) in the BSND gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BSND are known to be pathogenic (PMID: 11687798). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with Bartter syndrome (PMID: 19646679). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 4389). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002496257 SCV002810362 pathogenic Bartter disease type 4A 2022-04-29 criteria provided, single submitter clinical testing
OMIM RCV000004639 SCV000024813 pathogenic Sensorineural deafness with mild renal dysfunction 2009-08-01 no assertion criteria provided literature only

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