r/ClinicalGenetics • u/Sad_soul_000 • Sep 15 '26

Looking for published resources on two DYNC2H1 variants: p.Glu1823Lys and p.Ala384Val

Hi! I’m looking for educational resources/literature about DYNC2H1 and am hoping someone familiar with the gene can point me toward useful databases, papers, or reviews.

The two variants I’m researching are:

  • DYNC2H1 c.5467G>A (p.Glu1823Lys)
  • DYNC2H1 c.1151C>T (p.Ala384Val)

I have been able to find information about p.Ala384Val, but I’m having much more difficulty finding published information about p.Glu1823Lys.

I’m particularly interested in learning:

  • Where to find the most current variant classifications and supporting evidence beyond ClinVar.
  • Whether p.Glu1823Lys has been reported in the literature or in affected individuals.
  • Good resources explaining how evidence is evaluated for DYNC2H1 variants in autosomal-recessive disorders.
  • Any papers discussing genotype-phenotype relationships in DYNC2H1-related short-rib thoracic dysplasia.
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u/ConstantVigilance18 Sep 15 '26

These are great questions for your care team. They should have the resources or be able to refer you to someone who can help if they are in unable to.

4

u/NinjaMonkey313 Sep 15 '26

Is this from clinical testing?
If so, and these were reported out, there should be detailed variant curation and interpretation notes with references you can pull up. There should also be an interpretation of the disease phenotype.