Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000482017 | SCV000566524 | likely pathogenic | not provided | 2023-11-03 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Also known as c.1421_1422insA; This variant is associated with the following publications: (PMID: 26971583, 27356891, 31589614, 30414346, 29625052, 34308104, 24728327, 36451132, 36493725, 16947863) |
Ce |
RCV000482017 | SCV001245707 | likely pathogenic | not provided | 2025-04-01 | criteria provided, single submitter | clinical testing | ERCC3: PVS1, PM2:Supporting |
Centre for Mendelian Genomics, |
RCV000018055 | SCV001369260 | pathogenic | Xeroderma pigmentosum group B | 2019-10-08 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP5. |
Labcorp Genetics |
RCV000482017 | SCV002241342 | pathogenic | not provided | 2024-05-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp474Glufs*2) in the ERCC3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC3 are known to be pathogenic (PMID: 16947863). This variant is present in population databases (rs587778281, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with xeroderma pigmentosa (PMID: 16947863). ClinVar contains an entry for this variant (Variation ID: 134130). For these reasons, this variant has been classified as Pathogenic. |
Sema4, |
RCV002255296 | SCV002532598 | pathogenic | Xeroderma pigmentosum | 2022-02-23 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002477310 | SCV002778452 | likely pathogenic | Xeroderma pigmentosum group B; Trichothiodystrophy 2, photosensitive | 2022-02-08 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000482017 | SCV004235169 | pathogenic | not provided | 2023-05-25 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000018055 | SCV000038334 | pathogenic | Xeroderma pigmentosum group B | 2006-11-01 | no assertion criteria provided | literature only | |
ITMI | RCV000120802 | SCV000084966 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Prevention |
RCV004757130 | SCV005352961 | pathogenic | ERCC3-related disorder | 2024-05-16 | no assertion criteria provided | clinical testing | The ERCC3 c.1421dupA variant is predicted to result in a frameshift and premature protein termination (p.Asp474Glufs*2). This variant has been reported in an individual with xeroderma pigmentosum/Cockayne syndrome (Oh et al. 2006. PubMed ID: 16947863). This variant has also been reported in multiple individuals with various cancers including colorectal, endometrial, melanoma, and leukemia (Table 2, Dobbins et al. 2016. PubMed ID: 27356891; Table S1, Huang et al. 2018. PubMed ID: 29625052; Table 2, Potjer et al. 2019. PubMed ID: 30414346; Table S2, Kim et al. 2021. PubMed ID: 34308104). This variant is reported in 0.014% of alleles in individuals of European (non-Finnish) descent in gnomAD and it has been classified as pathogenic/likely pathogenic by other institutions in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/134130/). An in vitro experimental study suggests this variant affects DNA repair mechanisms (Figure 2, Oh et al. 2006. PubMed ID: 16947863). Frameshift variants in ERCC3 are expected to be pathogenic. This variant is interpreted as pathogenic. |