Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000468385 | SCV000541731 | uncertain significance | Beckwith-Wiedemann syndrome | 2016-12-13 | criteria provided, single submitter | clinical testing | Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, this variant is a novel in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a CDKN1C-related disease. This sequence change deletes 6 nucleotides from exon 1 of the CDKN1C mRNA (c.455_460delCGGTCC). This leads to the deletion of 2 amino acid residues in the CDKN1C protein (p.Pro152_Val153del) but otherwise preserves the integrity of the reading frame. |