Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152617 | SCV000201927 | uncertain significance | not specified | 2014-06-27 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Met1244Val vari ant in USH2A has not been previously reported in individuals with hearing loss a nd was absent from large population studies. Methionine (Met) at position 1344 i s not conserved in mammals or evolutionarily distant species and two mammals (gu inea pig, pika) carry a valine (val), raising the possibility that this change m ay be tolerated. Additional computational prediction tools do not provide strong support for or against an impact to the protein. In summary, while the clinical significance of the Met1244Val variant is uncertain, the lack of evolutionary c onservation suggest that is more likely to be benign. |
Invitae | RCV000930617 | SCV001076272 | likely benign | not provided | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Dept Of Ophthalmology, |
RCV003888579 | SCV004708015 | likely benign | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research |