ClinVar Miner

Submissions for variant NM_000307.5(POU3F4):c.341G>A (p.Trp114Ter)

dbSNP: rs111033343
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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, Mass General Brigham Personalized Medicine RCV000036254 SCV000059906 likely pathogenic Rare genetic deafness 2008-03-01 criteria provided, single submitter clinical testing
Invitae RCV002513376 SCV003445359 pathogenic not provided 2022-03-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 43346). This premature translational stop signal has been observed in individual(s) with X-linked recessive deafness (PMID: 21633365). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp114*) in the POU3F4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 248 amino acid(s) of the POU3F4 protein.

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