Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Broad Center for Mendelian Genomics, |
RCV000785937 | SCV000924517 | uncertain significance | Intellectual disability, X-linked, syndromic 33 | 2018-06-15 | criteria provided, single submitter | research | The hemizygous p.Ile944Thr variant was identified by our study in two brothers with syndromic intellectual disability. This variant was absent from large population studies. The Isoleucine (Ile) at position 944 is highly conserved in mammals and evolutionarily distant species, raising the possibility that a change at this position may not be tolerated. Computational prediction tools do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. |