ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1207T>C (p.Phe403Leu)

dbSNP: rs879254831
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238099 SCV000295298 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Ambry Genetics RCV002347940 SCV002648251 uncertain significance Cardiovascular phenotype 2019-09-13 criteria provided, single submitter clinical testing The p.F403L variant (also known as c.1207T>C and F382L), located in coding exon 9 of the LDLR gene, results from a T to C substitution at nucleotide position 1207. The phenylalanine at codon 403 is replaced by leucine, an amino acid with highly similar properties. This alteration has been been detected in individuals from familial hypercholesterolemia cohorts; however clinical details were limited (Varret M et al. Nucleic Acids Res., 1998 Jan;26:248-52; Hattori H et al. Hum. Mutat., 1999;14:87; Kim JH et al. Mol. Cells, 2004 Aug;18:63-70; Miyake Y et al. Atherosclerosis, 2009 Mar;203:153-60). 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.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000238099 SCV000606359 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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