ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.6655C>T (p.Arg2219Cys)

gnomAD frequency: 0.00007  dbSNP: rs141641980
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454449 SCV000538330 uncertain significance not specified 2016-06-16 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Only 1 report
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284264 SCV001469947 uncertain significance not provided 2021-04-27 criteria provided, single submitter clinical testing
Invitae RCV001861656 SCV002290021 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365577 SCV002663832 uncertain significance Cardiovascular phenotype 2020-09-11 criteria provided, single submitter clinical testing The p.R2219C variant (also known as c.6655C>T), located in coding exon 26 of the APOB gene, results from a C to T substitution at nucleotide position 6655. The arginine at codon 2219 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant (referred to as p.R2192C) has been detected in a hypertriglyceridemia cohort; however, details were limited (Johansen CT et al. Nat. Genet., 2010 Aug;42:684-7). This amino acid position is not well conserved in available vertebrate species, and cysteine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001861656 SCV002781966 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-07-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001284264 SCV004183719 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing APOB: PM2, PS4:Moderate, BP4

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