ClinVar Miner

Submissions for variant NM_000307.5(POU3F4):c.853_854del (p.Ile285fs)

dbSNP: rs397516336
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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 RCV000036260 SCV000059912 pathogenic Rare genetic deafness 2012-07-18 criteria provided, single submitter clinical testing The Ile285fs variant in POU3F4 has not been reported in the literature nor previ ously identified by our laboratory. However, this frameshift variant is predicte d to alter the protein?s amino acid sequence beginning at position 285 and lead to a premature termination codon 43 amino acids downstream. This alteration is t hen predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LM M).
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV001004804 SCV001164293 pathogenic X-linked mixed hearing loss with perilymphatic gusher 2018-05-07 no assertion criteria provided research X-linked, congenital, profound NSHL; Mondini

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