Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000558829 | SCV000625170 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2019-11-04 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine with asparagine at codon 164 of the MLH1 protein (p.Lys164Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is present in population databases (rs765014361, ExAC 0.003%). This variant has been observed in individual(s) with glioblastoma (PMID: 31160353). ClinVar contains an entry for this variant (Variation ID: 455440). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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. |
Color | RCV000580253 | SCV000684836 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-08-17 | criteria provided, single submitter | clinical testing | |
Cure Brain Cancer Foundation Neuro- |
RCV000580253 | SCV000902257 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2019-03-01 | no assertion criteria provided | research |