Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001128657 | SCV001288139 | benign | Congenital dyserythropoietic anemia type 4 | 2018-01-13 | 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
| Labcorp Genetics |
RCV002556813 | SCV003247094 | uncertain significance | not provided | 2023-03-31 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt KLF1 protein function. ClinVar contains an entry for this variant (Variation ID: 892550). This variant has not been reported in the literature in individuals affected with KLF1-related conditions. This variant is present in population databases (rs547785696, gnomAD 0.06%). This sequence change replaces tyrosine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 181 of the KLF1 protein (p.Tyr181Asn). |
| Ambry Genetics | RCV002556814 | SCV003728799 | uncertain significance | Inborn genetic diseases | 2021-12-06 | criteria provided, single submitter | clinical testing | The c.541T>A (p.Y181N) alteration is located in exon 2 (coding exon 2) of the KLF1 gene. This alteration results from a T to A substitution at nucleotide position 541, causing the tyrosine (Y) at amino acid position 181 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Mayo Clinic Laboratories, |
RCV002556813 | SCV004224569 | uncertain significance | not provided | 2023-02-07 | criteria provided, single submitter | clinical testing | BP4 |