ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.190+5G>A

dbSNP: rs1131692190
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000495939 SCV000583639 likely pathogenic Hypercholesterolemia, familial, 1 2017-03-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413363 SCV002722628 likely pathogenic Cardiovascular phenotype 2024-01-31 criteria provided, single submitter clinical testing The c.190+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 2 in the LDLR gene. This alteration has been reported in individuals with familial hypercholesterolemia (FH) (Ambry internal data). Another alteration impacting the same donor site (c.190+4A>T) has been described in numerous familial hypercholesterolemia cohorts (Leren TP et al. Semin Vasc Med. 2004;4(1):75-85; Punzalan FE et al. J Atheroscler Thromb. 2005;12(5):276-83; Khateeb A et al. BMC Med Genet. 2011;12:40; Hooper AJ et al. Atherosclerosis. 2012;224(2):430-4; Vandrovcova J et al. Genet Med. 2013;15(12):948-57). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000495939 SCV000606037 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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