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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
Edited in this revision:
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.
This variant was seen in a homozygous fashion together with a homozygous frameshift yielding a termination codon at codon 219. Both male English siblings were diagnosed with recessive familial Hypercholesterolemia at ages 7 and 9. Their normal sister had neither variant and their (presumed?) normal mother was heterozygous for both alleles.