ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys) (rs61741164)

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Total submissions: 8
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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 RCV000256241 SCV000322842 benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research 2/96 normolipidaemic Portuguese controls
GeneDx RCV000524085 SCV000620472 uncertain significance not specified 2017-09-01 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the APOB gene. The Y1247C variant has been reported as a benign variant in one study where it was found in the control population and did not segregate with FH in one family (Alves et al., 2014). This variant is observed in 0.1% alleles from individuals of African ancestry in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is not conserved across species. However, the Y1247C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In silico analysis predicts this variant is probably damaging to the protein structure/function.
Invitae RCV001086501 SCV000659281 likely benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000775214 SCV000909457 uncertain significance Familial hypercholesterolemia 2019-09-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000532315 SCV001152152 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001027453 SCV001301148 uncertain significance Hypobetalipoproteinemia, familial, 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina RCV001140852 SCV001301149 uncertain significance Familial hypercholesterolemia 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Metabolic Liver Diseases Lab,Fondazione IRCCS Ca Granda Policlinico, University of Milan RCV001027453 SCV001190021 likely pathogenic Hypobetalipoproteinemia, familial, 1 2018-12-01 no assertion criteria provided case-control

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