Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Undiagnosed Diseases Network, |
RCV000625958 | SCV000746556 | likely pathogenic | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 2016-12-08 | criteria provided, single submitter | clinical testing | This variant has been reported in PMID:28807008 (individual 1001). |
Department of Medical Genetics, |
RCV000625958 | SCV001437574 | likely pathogenic | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 2016-05-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001383184 | SCV001582256 | pathogenic | not provided | 2020-04-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Asn842 amino acid residue in CDK13. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 27479907, 28554332, 28807008). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has been observed in individual(s) with CDK13-related disease (PMID: 28807008, 29021403). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 522794). This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with aspartic acid at codon 842 of the CDK13 protein (p.Asn842Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. |
Daryl Scott Lab, |
RCV000625958 | SCV002072584 | pathogenic | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 2022-01-27 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000625958 | SCV000680088 | pathogenic | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 2024-02-15 | no assertion criteria provided | literature only | |
Gene |
RCV000625958 | SCV001370886 | not provided | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | no assertion provided | literature only |