ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.571C>T (p.Gln191Ter)

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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 RCV000237910 SCV000294798 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000237910 SCV000588508 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Robarts Research Institute, Western University RCV000237910 SCV000782950 pathogenic Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004639189 SCV005136029 pathogenic Cardiovascular phenotype 2024-03-27 criteria provided, single submitter clinical testing The c.571C>T (p.Q191*) alteration, located in exon 4 (coding exon 4) of the LDLR gene, consists of a C to T substitution at nucleotide position 571. This changes the amino acid from a glutamine (Q) to a stop codon at amino acid position 191. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant was reported in multiple individuals with features consistent with familial hypercholesterolemia (Mak, 1998; Yang, 2007). Based on the available evidence, this alteration is classified as pathogenic.

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