ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.4111G>A (p.Ala1371Thr)

gnomAD frequency: 0.00011  dbSNP: rs780170292
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute, Western University RCV000660685 SCV000782851 uncertain significance Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325333 SCV002626934 uncertain significance Cardiovascular phenotype 2022-06-24 criteria provided, single submitter clinical testing The c.4111G>A (p.A1371T) alteration is located in exon 25 (coding exon 25) of the APOB gene. This alteration results from a G to A substitution at nucleotide position 4111, causing the alanine (A) at amino acid position 1371 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
New York Genome Center RCV002467980 SCV002764548 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-03-01 criteria provided, single submitter clinical testing The c.4111G>A, p.Ala1371Thr variant identified in the APOB gene has not been reported in the literature. This variant has 14 heterozygotes in gnomAD(v3.0) suggesting it is not a common benign variant in the populations represented in that database. In silico algorithms predict a conflicting interpretation of pathogenicity. Given the lack of compelling evidence for its pathogenicity, the c.4111G>A, p.Ala1371Thr variant identified in the APOB gene is reported as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002467980 SCV002792955 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-07-28 criteria provided, single submitter clinical testing
Invitae RCV002467980 SCV003268626 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-11-13 criteria provided, single submitter clinical testing

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