Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000552069 | SCV000626424 | benign | Fanconi anemia | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001293953 | SCV001482657 | uncertain significance | Fanconi anemia complementation group P | 2019-11-13 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV001572565 | SCV001797228 | uncertain significance | not provided | 2021-05-25 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function |
Sema4, |
RCV000552069 | SCV002529329 | uncertain significance | Fanconi anemia | 2021-10-18 | criteria provided, single submitter | curation | |
KCCC/NGS Laboratory, |
RCV001293953 | SCV004015509 | likely benign | Fanconi anemia complementation group P | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003960260 | SCV004781807 | likely benign | SLX4-related disorder | 2022-02-18 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Genetic Services Laboratory, |
RCV003151083 | SCV003840065 | uncertain significance | not specified | 2022-09-08 | no assertion criteria provided | clinical testing | DNA sequence analysis of the SLX4 gene demonstrated a sequence change, c.3676C>T, in exon 12 that results in an amino acid change, p.Arg1226Trp. This sequence change has been previously described in familial breast cancer cases (PMID: 23840564). This sequence change has been described in the gnomAD database with a frequency of 0.4% in the African/African American subpopulation (dbSNP rs142008398). The p.Arg1226Trp change affects a poorly conserved amino acid residue located in a domain of the SLX4 protein that is not known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Arg1226Trp substitution. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Arg1226Trp change remains unknown at this time. |