ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.7094C>T (p.Ala2365Val)

gnomAD frequency: 0.00006  dbSNP: rs200034452
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985340 SCV001133416 uncertain significance not provided 2019-05-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360892 SCV002664114 uncertain significance Cardiovascular phenotype 2019-08-13 criteria provided, single submitter clinical testing The p.A2365V variant (also known as c.7094C>T), located in coding exon 26 of the APOB gene, results from a C to T substitution at nucleotide position 7094. The alanine at codon 2365 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and valine 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.
Fulgent Genetics, Fulgent Genetics RCV002487594 SCV002777335 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-08-27 criteria provided, single submitter clinical testing
Invitae RCV002487594 SCV003460847 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-12-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000985340 SCV003826862 uncertain significance not provided 2023-05-30 criteria provided, single submitter clinical testing
New York Genome Center RCV002487594 SCV003925364 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-01-28 criteria provided, single submitter clinical testing The c.7094C>T (p.Ala2365Val) variant identified in the APOB gene substitutes a moderately conserved Alanine for Valine at amino acid 2365/4564(exon 26/29). This variant is found with low frequency in gnomAD(v3.1.2) (10 heterozygotes, 0 homozygotes; allele frequency: 6.575e-5) suggesting it is not a common benign variant in the populations represented in that database. In silico algorithms predict this variant to be Benign (REVEL; score:0.066) and Tolerated (SIFT;score:0.661) to the function of the canonical transcript. This variant is reported in ClinVar as a Variant of Uncertain Significance (VarID:630612), and to our current knowledge has not been reported in affected individuals in the literature. Given the lack of compelling evidence for its pathogenicity, the c.7094C>T (p.Ala2365Val) variant identified in the APOB gene is reported as a Variant of Uncertain Significance.

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