ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.925G>A (p.Ala309Thr)

gnomAD frequency: 0.00026  dbSNP: rs141888564
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Total submissions: 5
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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
CeGaT Center for Human Genetics Tuebingen RCV001284270 SCV001746593 uncertain significance not provided 2021-04-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago 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.

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