Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003322768 | SCV004028028 | likely pathogenic | not provided | 2023-08-16 | criteria provided, single submitter | clinical testing | Mosaic variant present in affected tissue of patients with skin lesions in the literature (Kuentz et al., 2017; Tanaka et al., 2018; Gracis-Darder et al., 2023), including papillomatous pedunculated sebaceous nevus, non-epidermolytic keratinocytic epidermal nevus, and rounded and velvety epidermal nevus.; Mosaic variant identified in additional tumor types, including ameloblastoma, thyroid cancer, adenoid cystic carcinoma, and uterine corpus endometrial carcinoma (Brown et al., 2014; Sweeney et al., 2014; Chang et al., 2016; Chalal et al., 2018; Lu et al., 2018); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29701304, 24993163, 24859340, 28757314, 36376059, 29610392, 27368441, 27095246, 26619011) |
Database of Curated Mutations |
RCV000429923 | SCV000506386 | likely pathogenic | Malignant neoplasm of body of uterus | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000440577 | SCV000506387 | likely pathogenic | Gastric adenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000419879 | SCV000506388 | likely pathogenic | Carcinoma of esophagus | 2016-05-31 | no assertion criteria provided | literature only | |
Genome Sciences Centre, |
RCV000585739 | SCV000693662 | uncertain significance | Adenoid cystic carcinoma | 2018-02-01 | no assertion criteria provided | research |