Need educated/professional opinions on Rare variant in SLC29A3 gene
I am looking for some feed back on a gene variant that I tested for. SLC29A3 is the gene and the variant I have is c.714_715delinsCA. I am homozygous for this variant. It is not listed in ClinVar as having any frequency population. It is also not listed at all in GnomeAD. Even Invitae who sent me a supplement report stated the population frequency was none despite all the other variants listed having some sort of percentage. You will see there are several benign submissions listed under c.714_715inv (p.Val239Ile) but these submissions are based on the single nucleotide variants seen on positions 714 and 715. They took the single nucleotide variant benign submissions and copy and pasted them into the c.714_715inv (p.Val239Ile) variants as justification for a benign classification without having actually documented this variant anywhere. I have a long list of symptoms dating back to my childhood that many would call severe. I just figured it was my biology so I learned to live a certain way. I am diagnosed with bilateral skew feet but my functionality from living with this so long does a decent job masking my symptoms. Anyways any thoughts on this? Thank you in advance.
Posted Mar 5, 2026, 4:53 PM UTC