Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000478243 | SCV000571661 | uncertain significance | not provided | 2021-08-03 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect in vivo (Kellaris et al., 2018); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29490693) |
Invitae | RCV000478243 | SCV003461838 | uncertain significance | not provided | 2023-10-09 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 79 of the DDX3X protein (p.Arg79Lys). This variant is present in population databases (no rsID available, gnomAD 0.001%). This missense change has been observed in individual(s) with X-linked intellectual disability (PMID: 29490693). ClinVar contains an entry for this variant (Variation ID: 422246). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this missense change affects DDX3X function (PMID: 29490693). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
OMIM | RCV001093533 | SCV001250581 | pathogenic | Intellectual disability, X-linked 102 | 2020-05-07 | no assertion criteria provided | literature only | |
Gene |
RCV001093533 | SCV002098131 | not provided | Intellectual disability, X-linked 102 | no assertion provided | literature only | Observed in the hemizygous state in an affected male & in the heterozygous state in an unaffected female relative [Snijders Blok et al 2015, Wang et al 2018, Lennox et al 2020] |