ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9140C>G (p.Thr3047Arg)

dbSNP: rs61742323
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001838050 SCV000777064 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000655139 SCV001133429 benign not provided 2019-06-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001139542 SCV001299711 uncertain significance Familial hypobetalipoproteinemia 1 2018-07-18 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 RCV001139543 SCV001299712 benign Hypercholesterolemia, autosomal dominant, type B 2018-07-18 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Ambry Genetics RCV002369772 SCV002685633 likely benign Cardiovascular phenotype 2018-12-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000655139 SCV004138660 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing APOB: BP4, BS2

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