ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2167del (p.Glu723fs)

dbSNP: rs879255153
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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 RCV000237666 SCV000295905 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Institute of Human Genetics, University of Leipzig Medical Center RCV000237666 SCV001950087 pathogenic Hypercholesterolemia, familial, 1 2023-02-14 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with NM_000527.5:c.397G>T._x000D_ Criteria applied: PVS1, PS4_MOD, PM2_SUP
Ambry Genetics RCV002429176 SCV002731349 pathogenic Cardiovascular phenotype 2019-07-08 criteria provided, single submitter clinical testing The c.2167delG pathogenic mutation, located in coding exon 15 of the LDLR gene, results from a deletion of one nucleotide at nucleotide position 2167, causing a translational frameshift with a predicted alternate stop codon (p.E723Rfs*7). This alteration has been detected in an individual with hypercholesterolemia (Bochmann H et al. Hum. Mutat., 2001;17:76-7). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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