ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1865A>G (p.Asp622Gly)

dbSNP: rs879255060
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237397 SCV000295727 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation RCV000237397 SCV000540847 likely pathogenic Hypercholesterolemia, familial, 1 2016-11-05 criteria provided, single submitter clinical testing
Fundacion Hipercolesterolemia Familiar RCV000237397 SCV000607650 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Ambry Genetics RCV002411100 SCV002720968 pathogenic Cardiovascular phenotype 2017-12-20 criteria provided, single submitter clinical testing The p.D622G pathogenic mutation (also known as c.1865A>G), located in coding exon 13 of the LDLR gene, results from an A to G substitution at nucleotide position 1865. The aspartic acid at codon 622 is replaced by glycine, an amino acid with similar properties. This alteration has been described in individuals with familial hypercholesterolemia (FH) (Alonso R et al. Clin. Biochem., 2009 Jun;42:899-903; Tichý L et al. Atherosclerosis, 2012 Aug;223:401-8). In addition, alterations affecting the same amino acid residue, p.D622N, p.D622Y, and p.D622A, have also been reported in FH cases (Zakharova FM et al. BMC Med. Genet., 2005 Feb;6:6; Graham CA et al. Atherosclerosis, 2005 Oct;182:331-40; Jiang L et al. J. Clin. Lipidol., 2015 Dec;10:538-546.e5). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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