Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000779746 | SCV000916520 | uncertain significance | not specified | 2018-03-12 | criteria provided, single submitter | clinical testing | Variant summary: APOB c.10541C>T (p.Ala3514Val) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 121156 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.10541C>T in individuals affected with Familial Hypercholesterolemia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Invitae | RCV002535661 | SCV003255929 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003166066 | SCV003862070 | uncertain significance | Cardiovascular phenotype | 2023-02-12 | criteria provided, single submitter | clinical testing | The p.A3514V variant (also known as c.10541C>T), located in coding exon 26 of the APOB gene, results from a C to T substitution at nucleotide position 10541. The alanine at codon 3514 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. 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. |