Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000205772 | SCV000260885 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2022-12-14 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 220390). 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 or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with clinical features of Lynch syndrome (Invitae). This variant is not present in population databases (gnomAD no frequency). This variant, c.203_208del, results in the deletion of 2 amino acid(s) of the PMS2 protein (p.Val68_Ser69del), but otherwise preserves the integrity of the reading frame. |
| Ambry Genetics | RCV002415869 | SCV002718710 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-06-28 | criteria provided, single submitter | clinical testing | The c.203_208delTTTCAG variant (also known as p.V68_S69del) is located in coding exon 3 of the PMS2 gene. This variant results from an in-frame TTTCAG deletion at nucleotide positions 203 to 208. This results in the in-frame deletion of a valine residue and serine residue at codons 68 and 69. This amino acid region is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |