Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000645519 | SCV000767265 | uncertain significance | Multiple endocrine neoplasia type 4 | 2024-04-18 | criteria provided, single submitter | clinical testing | This variant, c.252_253delinsCT, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the CDKN1B protein (p.Leu84_Pro85delinsPheSer). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with CDKN1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 536842). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
| Ambry Genetics | RCV004609465 | SCV005105246 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-04-17 | criteria provided, single submitter | clinical testing | The c.252_253delGCinsCT variant (also known as p.L84_P85delinsFS), located in coding exon 1 of the CDKN1B gene, results from an in-frame deletion of GC and insertion of CT at nucleotide positions 252 to 253. This results in the deletion of 2 amino acids (LP) and the insertion of 2 new amino acids (FS) at codons 84 to 85. These nucleotide and amino acid positions are well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |