Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000116634 | SCV000150598 | uncertain significance | not provided | 2013-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000116634 | SCV000564858 | uncertain significance | not provided | 2018-08-17 | criteria provided, single submitter | clinical testing | The E544V variant in the CDT1 gene has been published previously in a single individual with abnormality of growth (Retterer et al., 2016). The E544V variant is observed in 290/102030 (0.28%) alleles from individuals of non-Finnish European background in large population cohorts, and one individual is reported to be homozygous (Lek et al., 2016). The E544V variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret E544V as a variant of uncertain significance. |
Invitae | RCV000116634 | SCV001045007 | likely benign | not provided | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000116634 | SCV004138185 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | CDT1: BP4 |