Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Broad Center for Mendelian Genomics, |
RCV000984494 | SCV001132545 | uncertain significance | Intellectual disability, X-linked 104 | 2018-11-15 | criteria provided, single submitter | research | The hemizygous p.Gln430Glu variant in FRMPD4 was identified by our study in one individual with X-Linked Mental Retardation. This variant was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Gln430Glu variant is uncertain. |