ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1980G>C (p.Gln660His)

dbSNP: rs1382517876
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003163918 SCV003866480 uncertain significance Cardiovascular phenotype 2024-11-21 criteria provided, single submitter clinical testing The p.Q660H variant (also known as c.1980G>C), located in coding exon 13 of the LDLR gene, results from a G to C substitution at nucleotide position 1980. The glutamine at codon 660 is replaced by histidine, an amino acid with highly similar properties. This alteration has been reported as compound heterozygous with additional alterations in LDLR in individuals reported to have familial hypercholesterolemia (FH) (Du Z et al. iScience, 2022 Nov;25:105334). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
The Key Laboratory of Remodeling–Related Cardiovascular Diseases, Beijing Institute of Heart, Lung and Blood Vessel Diseases RCV002227547 SCV002014610 pathogenic Hypercholesterolemia, familial, 1 2019-11-30 no assertion criteria provided clinical testing

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