ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.7619G>T (p.Gly2540Val)

dbSNP: rs571626569
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001837988 SCV000659300 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-18 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000554814 SCV001133420 benign not provided 2023-04-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001137529 SCV001297475 likely benign Hypercholesterolemia, autosomal dominant, type B 2018-01-12 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV001137530 SCV001297476 uncertain significance Familial hypobetalipoproteinemia 1 2018-01-12 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.
GeneDx RCV000554814 SCV002552732 uncertain significance not provided 2022-06-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in a patient with familial hypercholesterolemia, however, this variant was also observed in controls at a similar frequency (Al-Khateeb et al., 2016); Identified in a patient with severe proliferative diabetic retinopathy in the published literature, although APOB was considered a candidate gene for the phenotype and additional clinical information was not included (Ung et al., 2017); Also known as p.G2513V; This variant is associated with the following publications: (PMID: 28431867, Al-Khateeb2016[CaseReport], 34875256, 32044282)
Ambry Genetics RCV002395493 SCV002669664 benign Cardiovascular phenotype 2017-06-09 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000554814 SCV004138662 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing APOB: BP4, BS1

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