Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001336434 | SCV001529815 | uncertain significance | Microcephaly 3, primary, autosomal recessive | 2018-05-14 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV001587354 | SCV001823241 | uncertain significance | not provided | 2020-06-09 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001587354 | SCV002148449 | uncertain significance | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1392 of the CDK5RAP2 protein (p.Gln1392Arg). This variant is present in population databases (rs138157153, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with CDK5RAP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1033895). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. |
Ambry Genetics | RCV002546777 | SCV003649354 | uncertain significance | Inborn genetic diseases | 2021-07-09 | criteria provided, single submitter | clinical testing | The c.4175A>G (p.Q1392R) alteration is located in exon 27 (coding exon 27) of the CDK5RAP2 gene. This alteration results from a A to G substitution at nucleotide position 4175, causing the glutamine (Q) at amino acid position 1392 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Ce |
RCV001587354 | SCV004702067 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | CDK5RAP2: BP4 |