ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.499C>T (p.Pro167Ser) (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 Familial hypercholesterolemia 1 criteria provided, single submitter research
Color Health, Inc RCV000775224 SCV000909468 uncertain significance Familial hypercholesterolemia 2019-03-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001143115 SCV001303617 uncertain significance Hypobetalipoproteinemia, familial, 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 Clinical Services Laboratory,Illumina RCV001143116 SCV001303618 likely benign Familial hypercholesterolemia 2 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.
Invitae RCV001317745 SCV001508415 uncertain significance Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2020-09-10 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 167 of the APOB protein (p.Pro167Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs139842930, ExAC 0.01%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been observed in individual(s) with clinical features of familial hypercholesterolemia (PMID: 26036859). ClinVar contains an entry for this variant (Variation ID: 189306). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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