ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.705dup (p.Cys236fs)

dbSNP: rs879254653
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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 RCV000237205 SCV000294934 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Ambry Genetics RCV004639190 SCV005135995 pathogenic Cardiovascular phenotype 2024-05-15 criteria provided, single submitter clinical testing The c.705dupC pathogenic mutation, located in coding exon 5 of the LDLR gene, results from a duplication of C at nucleotide position 705, causing a translational frameshift with a predicted alternate stop codon (p.C236Lfs*4). This variant (also referred to as 'ins C after nt C704') has been detected in individuals with features consistent with familial hypercholesterolemia (Tosi I et al. Atherosclerosis, 2007 Sep;194:102-11; Ambry internal data). 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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