ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1833G>T (p.Leu611Phe)

dbSNP: rs879255041
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237875 SCV000295688 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Ambry Genetics RCV002411094 SCV002711550 likely pathogenic Cardiovascular phenotype 2019-09-09 criteria provided, single submitter clinical testing The p.L611F variant (also known as c.1833G>T), located in coding exon 12 of the LDLR gene, results from a G to T substitution at nucleotide position 1833. The leucine at codon 611 is replaced by phenylalanine, an amino acid with highly similar properties. This variant (also reported as legacy p.L590F) and a close match p.L611F (c.1833G>C) have been detected in individuals with familial hypercholesterolemia (Heath KE et al. Eur. J. Hum. Genet., 2001 Apr;9:244-52; Fouchier SW et al. Hum. Genet., 2001 Dec;109:602-15). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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