ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.6875T>C (p.Ile2292Thr)

gnomAD frequency: 0.00004  dbSNP: rs145977507
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997060 SCV001152143 likely benign not provided 2018-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360889 SCV002666105 uncertain significance Cardiovascular phenotype 2018-09-12 criteria provided, single submitter clinical testing The p.I2292T variant (also known as c.6875T>C), located in coding exon 26 of the APOB gene, results from a T to C substitution at nucleotide position 6875. The isoleucine at codon 2292 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly conserved in available 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.
Invitae RCV003768390 SCV004568668 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-05-07 criteria provided, single submitter clinical testing

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