Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000166502 | SCV000217301 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-01-07 | criteria provided, single submitter | clinical testing | Insufficient or conflicting evidence;Co-occurence with mutation in same gene (phase unknown) |
Invitae | RCV000199020 | SCV000254419 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2019-12-31 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with serine at codon 126 of the MSH2 protein (p.Gly126Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs767371843, ExAC 0.001%). This variant has been reported in individuals affected with Lynch syndrome-associated tumors (PMID: 24278394, 28449805). However, one of these individuals also carried another variant in the MSH2 gene (PMID: 24278394). ClinVar contains an entry for this variant (Variation ID: 186849). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. |
Fulgent Genetics, |
RCV000515190 | SCV000611401 | uncertain significance | Lynch syndrome I; Turcot syndrome; Muir-Torré syndrome | 2017-05-23 | criteria provided, single submitter | clinical testing | |
Color | RCV000166502 | SCV001349879 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-06-27 | criteria provided, single submitter | clinical testing |