ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.26C>A (p.Ser9Ter)

dbSNP: rs776268964
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001855734 SCV002164437 pathogenic not provided 2022-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 627492). This premature translational stop signal has been observed in individual(s) with deafness (PMID: 31541171). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser9*) in the WHRN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WHRN are known to be pathogenic (PMID: 12833159, 15841483, 22147658).
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital RCV000770887 SCV000902403 pathogenic Autosomal recessive nonsyndromic hearing loss 31 2019-02-26 no assertion criteria provided case-control

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