Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Cardiovascular Research Group, |
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, |
RCV000256329 | SCV000503499 | benign | Hypercholesterolemia, familial, 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subject mutated among 2600 FH index cases screened = 1 |
Gene |
RCV001561866 | SCV001784544 | likely benign | not provided | 2017-07-28 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
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. |
GENin |
RCV004584652 | SCV005074001 | benign | Familial hypercholesterolemia | 2024-05-07 | criteria provided, single submitter | clinical testing |