Questions about multinucleotide variants (MNVs) belong in this category.
I am a clinical immunologist, not a geneticist. I have a patient with an undefined combined immunodeficiency and iron resistant iron deficiency anemia who has the following variant in TFRC, which is not in the gnomAD database:
NM_ 003234.3:c.1678-5_1678-4delinsCA.
I was intrigued, because I wondered whether this might cause a splice variant that might lead to the patient’s phenotype. However, our geneticist found this variant in ClinVar (1135361) with a posting from a 2023 Argentinian group who said that the prevalence in a local population is 52% of patients. Can you resolve this discrepancy?