Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001205266 | SCV001376508 | uncertain significance | Multiple endocrine neoplasia type 4 | 2019-05-13 | 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. 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 CDKN1B-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the CDKN1B gene (p.Pro155Tyrfs*71). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 44 amino acids of the CDKN1B protein and extend the protein by an additional 26 amino acids. |