ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.4097T>C (p.Leu1366Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV003228594 SCV003925167 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-06-07 criteria provided, single submitter clinical testing The c.4097T>C, p.(Leu1366Ser) variant identified in the APOB gene has not previously been reported in the literature nor has it been deposited in ClinVar. The c.4097T>C variant is absent from population databases (gnomAD v2.1.1 and v3.1.2, TOPMed Freeze 8), suggesting it is not a common benign variant in the populations represented in those databases. The c.4097T>C variant is located in exon 25 of this 29-exon gene, and the predicted p.(Leu1366Ser) variant replaces a Leucine amino acid with Serine at position 1366/4564. In silico predictions are not in favor of deleterious effect of the variant on the encoded protein (REVEL= 0.085). Based on available evidence this c.4097T>C p.(Leu1366Ser) variant identified in the APOB gene is classified as a Variant of Uncertain Significance.

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