ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1640C>A (p.Thr547Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002403540 SCV002707693 uncertain significance Cardiovascular phenotype 2022-07-25 criteria provided, single submitter clinical testing The p.T547N variant (also known as c.1640C>A), located in coding exon 13 of the APOB gene, results from a C to A substitution at nucleotide position 1640. The threonine at codon 547 is replaced by asparagine, 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.
Invitae RCV003774427 SCV004580288 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-06-16 criteria provided, single submitter clinical testing

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