Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000531396 | SCV000647891 | uncertain significance | Syndromic X-linked intellectual disability Raymond type | 2017-01-16 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine with histidine at codon 133 of the ZDHHC9 protein (p.Asn133His). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and histidine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a ZDHHC9-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. |