Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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. |
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 |