Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001838239 | SCV000963073 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-11-22 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811505 | SCV002050177 | uncertain significance | not provided | 2021-07-17 | criteria provided, single submitter | clinical testing | The APOB c.9770A>G; p.Asn3257Ser variant (rs146178619), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 664229). This variant is found in the non-Finnish European population with an allele frequency of 0.01% (12/113,532 alleles, including 0 homozygotes) in the Genome Aggregation Database. The asparagine at codon 3257 is moderately conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.271). Due to limited information, the clinical significance of the APOB c.9770A>G; p.Asn3257Ser variant is uncertain at this time. |
Ambry Genetics | RCV003372885 | SCV004096068 | uncertain significance | Cardiovascular phenotype | 2023-08-08 | criteria provided, single submitter | clinical testing | The p.N3257S variant (also known as c.9770A>G), located in coding exon 26 of the APOB gene, results from an A to G substitution at nucleotide position 9770. The asparagine at codon 3257 is replaced by serine, an amino acid with highly similar properties. This variant has been detected in an individual with hypercholesterolemia and in a myocardial infarction cohort (Rieck L et al. Clin Genet, 2020 Nov;98:457-467; Pan-Lizcano R et al. Int J Mol Sci, 2022 Dec;23). This amino acid position is well conserved in available 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. |