ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9448T>C (p.Phe3150Leu)

gnomAD frequency: 0.00005  dbSNP: rs185224477
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985343 SCV001133431 uncertain significance not provided 2019-05-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487593 SCV002777334 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-08-27 criteria provided, single submitter clinical testing
Invitae RCV002487593 SCV003301599 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-12-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000985343 SCV003826861 uncertain significance not provided 2021-09-27 criteria provided, single submitter clinical testing
New York Genome Center RCV002487593 SCV003925353 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-01-28 criteria provided, single submitter clinical testing The c.9448T>C (p.Phe3150Leu) variant identified in the APOB gene substitutes a moderately conserved Phenylalanine for Leucine at amino acid 3150/4564 (exon 26/29). This variant is found with low frequency in gnomAD(v3.1.2) (8 heterozygotes, 0 homozygotes; allele frequency: 5.257e-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:0.141) and Tolerated (SIFT; score:0.077) to the function of the canonical transcript. This variant is reported in ClinVar as a Variant of Uncertain Significance (VarID:630605) and has beenreported in a single individual in the literature with familial hypercholesterolemia [PMID:33137929]. Given the lack of compelling evidence for its pathogenicity, thec.9448T>C (p.Phe3150Leu) variant identified in the APOB gene is reported as a Variant of Uncertain Significance.

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