Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003079623 | SCV003470334 | uncertain significance | Cutis laxa, autosomal recessive, type 1B | 2021-12-24 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with EFEMP2-related conditions. This variant is present in population databases (rs772715527, gnomAD 0.006%). This sequence change affects codon 406 of the EFEMP2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the EFEMP2 protein. |