Probably a non-pathogenic polymorphism. It was initially thought to be involved in autosomal recessive congenital ichthyosis, but later authors found the variant in numerous healthy controls.
Allele frequency relatively common in controls
Does not segregate with disease
Low clinical importance, Likely benign
(The "low clinical importance, likely" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, Bale
SJ, Toro JR. Transglutaminase-1 gene mutations in autosomal recessive congenital
ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.
Hum Mutat. 2009 Apr;30(4):537-47. Review. PubMed PMID: 19241467.
These authors examine various reports of the variant and conclude it is likely a non-pathogenic polymorphism, noting numerous findings in controls and lack of segregation in some affected families.
hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr14:24724663
GS19669 - var-GS19669-1100-36-ASM
het T @ chr14:23794503