ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.*13A>G

gnomAD frequency: 0.00255  dbSNP: rs72658871
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256329 SCV000323019 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research 0/190 non-FH alleles
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000256329 SCV000503499 benign Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1
GeneDx RCV001561866 SCV001784544 likely benign not provided 2017-07-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003401221 SCV004121995 benign not specified 2023-10-23 criteria provided, single submitter clinical testing Variant summary: LDLR c.*13A>G is located in the untranslated mRNA region downstream of the termination codon. The variant allele was found at a frequency of 0.0006 in 251482 control chromosomes, predominantly at a frequency of 0.0087 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 7 fold of the estimated maximal expected allele frequency for a pathogenic variant in LDLR causing Familial Hypercholesterolemia phenotype (0.0013), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. c.*13A>G has been reported in the literature in individuals affected with Familial Hypercholesterolemia (Amsellem_2002, Mariano_2020). These reports do not provide unequivocal conclusions about association of the variant with Familial Hypercholesterolemia. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 12436241, 31893465). Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014 and classified this variant as uncertain significance, likely benign and benign. Based on the evidence outlined above, the variant was classified as benign.
GENinCode PLC RCV004584652 SCV005074001 benign Familial hypercholesterolemia 2024-05-07 criteria provided, single submitter clinical testing

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