ClinVar Miner

Submissions for variant NM_002700.3(POU4F3):c.886C>T (p.Gln296Ter)

dbSNP: rs2126961983
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003442886 SCV004169798 likely pathogenic not provided 2023-05-08 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation, as the last 43 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34387732)
Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean RCV001786490 SCV001712147 pathogenic Autosomal dominant nonsyndromic hearing loss 15 2019-08-26 no assertion criteria provided clinical testing

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