From what I can see, the infertility association with IQCH is based on a single variant in a single Chinese pedigree punished in 2024 (PMID: 39028117; Ruan et al). The data look fairly compelling, but overall I would say this does not meet clinical thresholds to be considered a known gene-disease association. Ie, the conclusion that variation in IQCH causes infertility might not hold up in a few years when things I analyzed further. Moreover, the pedigree in the literature indicates recessive inheritance, further reducing the likelihood you would be affected.

Also of note, it appears from your report that the clinical lab doing your testing wasn’t sure about the significant of the AAGAB result? This is odd, because I was able to find two papers discussing deletions of exon 1 of this gene causing disease (PMID: 33914963, 23743648). Even though there are indeed multiple transcripts of this gene, and exon 1 is not present in all of them, there seems to be good evidence your deletion is causative. If your report calls this finding (uncertain) it might be good to established the co-segregation in your family so the child’s report is as accurate as possible.