Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000527683 | SCV000626456 | likely benign | Fanconi anemia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001118601 | SCV001276896 | uncertain significance | Fanconi anemia complementation group P | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Institute for Clinical Genetics, |
RCV001775845 | SCV002009213 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001775845 | SCV002013160 | uncertain significance | not provided | 2019-10-24 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Genetic Services Laboratory, |
RCV001821493 | SCV002068137 | uncertain significance | not specified | 2021-01-05 | criteria provided, single submitter | clinical testing | This sequence change does not appear to have been previously described in patients with SLX4-related disorders and has been described in the gnomAD database with a relatively high population frequency of 0.49% in the Finnish subpopulation (dbSNP rs144832924). The p.Arg29Cys 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.Arg29Cys substitution. Due to these contrasting evidences and the lack of functional studies, the clinical significance of the p.Arg29Cys change remains unknown at this time. |
Sema4, |
RCV000527683 | SCV002529398 | likely benign | Fanconi anemia | 2021-06-13 | criteria provided, single submitter | curation |