Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001838018 | SCV000777014 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284270 | SCV001469954 | uncertain significance | not provided | 2020-01-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001284270 | SCV001746593 | uncertain significance | not provided | 2021-04-01 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816652 | SCV002067940 | uncertain significance | not specified | 2021-02-18 | criteria provided, single submitter | clinical testing | DNA sequence analysis of the APOB gene demonstrated a sequence change, c.925G>A, in exon 9 that results in an amino acid change, p.Ala309Thr. This sequence change has been described in gnomAD with a low population frequency of 0.022% (dbSNP rs141888564). The p.Ala309Thr change affects a moderately conserved amino acid residue located in a domain of the APOB protein that is known to be functional. The p.Ala309Thr substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). This sequence change does not appear to have been previously described in patients with APOB-related disorders. Due to the lack of sufficient evidences, the clinical significance of the p.Ala309Thr change remains unknown at this time. |
Ambry Genetics | RCV002369768 | SCV002686498 | uncertain significance | Cardiovascular phenotype | 2021-03-11 | criteria provided, single submitter | clinical testing | The p.A309T variant (also known as c.925G>A), located in coding exon 9 of the APOB gene, results from a G to A substitution at nucleotide position 925. The alanine at codon 309 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, threonine 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. |