Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003387720 | SCV004099554 | uncertain significance | not specified | 2023-09-06 | criteria provided, single submitter | clinical testing | Variant summary: TF c.1180G>A (p.Glu394Lys) results in a conservative amino acid change located in the transferrin-like domain (IPR001156) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 250576 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1180G>A has been reported in the literature in an individual affected with Atransferrinemia (Asada-Senju_2002). This patient inherited the variant paternally and was presumed to be compound heterozygous together with an inferred, but unidentified, null maternal allele based on results from isoelectric focusing analysis which showed only an abnormal TF variant protein (also shared by the father) in the proband. These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 12111369). No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance. |
| OMIM | RCV000013458 | SCV000033705 | pathogenic | Atransferrinemia | 2002-01-01 | no assertion criteria provided | literature only |