Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.
Please help improve GET-Evidence by evaluating evidence for this variant!
You are viewing an old version of this page that was saved on January 14, 2010 at 9:24am by Abraham Rosenbaum.
Edited in this revision:
This variant was seen in a homozygous fashion (together with a homozygous frameshift yielding a termination codon at codon 219) in two male English siblings who were diagnosed with recessive familial Hypercholesterolemia at ages 7 and 9.
Insufficiently evaluated pathogenic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Eden ER, Patel DD, Sun XM, Burden JJ, Themis M, Edwards M, Lee P, Neuwirth C,
Naoumova RP, Soutar AK. Restoration of LDL receptor function in cells from
patients with autosomal recessive hypercholesterolemia by retroviral expression
of ARH1. J Clin Invest. 2002 Dec;110(11):1695-702. PubMed PMID: 12464675; PubMed
Central PMCID: PMC151635.