ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.499C>T (p.Pro167Ser)

gnomAD frequency: 0.00010  dbSNP: rs139842930
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Integrative and Experimental Genomics, University of Luebeck RCV000172973 SCV000212151 likely benign Hypercholesterolemia, familial, 1 criteria provided, single submitter research
Illumina Laboratory Services, Illumina RCV001143115 SCV001303617 uncertain significance Familial hypobetalipoproteinemia 1 2017-06-08 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001143116 SCV001303618 likely benign Hypercholesterolemia, autosomal dominant, type B 2017-06-08 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001837742 SCV001508415 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336388 SCV002640661 uncertain significance Cardiovascular phenotype 2023-04-12 criteria provided, single submitter clinical testing The p.P167S variant (also known as c.499C>T), located in coding exon 5 of the APOB gene, results from a C to T substitution at nucleotide position 499. The proline at codon 167 is replaced by serine, an amino acid with similar properties. In an exome study of German patients with myocardial infarction before 60 years old and a family history of coronary artery disease, this variant did not segregate with disease in one family. Family members with this variant also had a mean corrected LDL-C of 168.8mg/dL (Brænne I et al. Eur. J. Hum. Genet., 2016 Feb;24:191-7). This amino acid position is highly conserved in available vertebrate species. 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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