Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038130 | SCV000061796 | uncertain significance | not specified | 2010-08-17 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Pathogenic. This variant ha s been observed as a somatic change in lung adenocarcinoma, gastric carcinoma, a nd adenocarcinoma of the rectum (Lee 2006, Bettitta 2006). Other amino acid chan ges (V777M, V777A) at this amino acid position have also been reported as somati c changes (COSMIC). In two individuals with colorecal cancer, a V777 mutation wa s coincidentally identified in a tumor with a G12D mutation in KRAS. The clinica l significance of this variant cannot be determined at this time. |