Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001091717 | SCV001247910 | pathogenic | not provided | 2020-06-01 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV000011457 | SCV001367753 | likely pathogenic | Syndromic X-linked intellectual disability Raymond type | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP2,PP3. This variant was detected in hemizygous state. |
Diagnostic Laboratory, |
RCV001260822 | SCV001437918 | likely pathogenic | Intellectual disability | 2020-09-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000011457 | SCV001587967 | pathogenic | Syndromic X-linked intellectual disability Raymond type | 2023-04-12 | criteria provided, single submitter | clinical testing | Experimental studies have shown that this missense change affects ZDHHC9 function (PMID: 24811172). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ZDHHC9 protein function. ClinVar contains an entry for this variant (Variation ID: 10711). This missense change has been observed in individual(s) with X-linked intellectual disability (PMID: 17436253, 29681091). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 148 of the ZDHHC9 protein (p.Arg148Trp). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000011457 | SCV000031689 | pathogenic | Syndromic X-linked intellectual disability Raymond type | 2007-05-01 | no assertion criteria provided | literature only |