Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000703082 | SCV000831964 | uncertain significance | Beckwith-Wiedemann syndrome | 2021-09-17 | 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 has not been reported in the literature in individuals affected with CDKN1C-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces alanine with aspartic acid at codon 159 of the CDKN1C protein (p.Ala159Asp). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. |