ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1033G>A (p.Ala345Thr)

gnomAD frequency: 0.00004  dbSNP: rs777330578
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733478 SCV000861554 uncertain significance not provided 2018-06-13 criteria provided, single submitter clinical testing
Invitae RCV001838127 SCV001214767 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388373 SCV002697798 uncertain significance Cardiovascular phenotype 2022-04-25 criteria provided, single submitter clinical testing The p.A345T variant (also known as c.1033G>A), located in coding exon 9 of the APOB gene, results from a G to A substitution at nucleotide position 1033. The alanine at codon 345 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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