Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000805837 | SCV000945809 | uncertain significance | Cutis laxa, autosomal recessive, type 1B | 2018-10-22 | 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. This variant disrupts a region of the protein in which other variant(s) (p.Ala397Thr) have been observed in affected individuals (PMID: 20389311). This suggests that this may be a clinically significant region of the EFEMP2 protein. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with EFEMP2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the EFEMP2 gene (p.Ile392Serfs*14). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 52 amino acids of the EFEMP2 protein. |