Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000560160 | SCV000625505 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2021-10-05 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 455639). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with PMS2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with serine at codon 38 of the PMS2 protein (p.Ala38Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. |
Sema4, |
RCV002256339 | SCV002529757 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-12-10 | criteria provided, single submitter | curation |