Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145483 | SCV000192568 | uncertain significance | Microcephaly 3, primary, autosomal recessive | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000658288 | SCV000780059 | uncertain significance | not provided | 2018-05-17 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the CDK5RAP2 gene. The S1446R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S1446R variant is observed in 185/34420 (0.5%) alleles from individuals of Latino background in large population cohorts, which is greater than expected for this disorder. (Lek et al., 2016). However, the S1446R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Invitae | RCV000658288 | SCV001022602 | likely benign | not provided | 2023-11-07 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000145483 | SCV001529817 | uncertain significance | Microcephaly 3, primary, autosomal recessive | 2018-01-26 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Prevention |
RCV003975143 | SCV004788184 | likely benign | CDK5RAP2-related condition | 2020-04-24 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |