Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Broad Center for Mendelian Genomics, |
RCV000785949 | SCV000924529 | uncertain significance | SLC39A8-CDG | 2018-06-15 | criteria provided, single submitter | research | The homozygous p.Cys113Arg variant was identified by our study in one individual with congenital disorder of glycosylation type IIn. This variant was absent from large population studies. The Cysteine (Cys) at position 113 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 suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain. |