Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155447 | SCV000205138 | uncertain significance | not specified | 2013-09-12 | criteria provided, single submitter | clinical testing | The Gly277Arg variant in KCNQ4 has not been reported in individuals affected wit h hearing loss or in large population studies. Computational analyses (biochemic al amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Gly277Arg variant may impact the protein. In addition, this variant occ urs in the conserved pore forming region (P-loop) of the KCNQ4 protein, and s everal variants in this region have been reported as disease causing. However, w ith functional studies, this information is not enough to assume pathogenicity. In summary, additional data is needed to determine the clinical significance of this variant. |
Fulgent Genetics, |
RCV000763910 | SCV000894851 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 2A | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000763910 | SCV004173197 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 2A | 2023-04-11 | criteria provided, single submitter | clinical testing |