Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152567 | SCV000201817 | uncertain significance | not specified | 2013-10-17 | criteria provided, single submitter | clinical testing | The Ile4211Met variant in USH2A has not been reported in individuals with hearin g loss or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Ile4211Met variant may not impact the protein, though this information is not p redictive enough to rule out pathogenicity. In summary, additional data is neede d to determine the clinical significance of this variant. |