ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10460C>T (p.Thr3487Ile)

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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 RCV003228599 SCV003925178 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-06-15 criteria provided, single submitter clinical testing The c.10460C>T p.(Thr3487Ile) variant identified in the APOB gene is predicted to result in the substitution of a Threonine for Isoleucine at amino acid 3487/4564 (exon 26/29). This variant is found with low frequency in population databases gnomAD, BRAVO-TOPMed Freeze 8, All of Us (allele frequency=3.99e-6) suggesting it is not a common benign variant in the populations represented in those databases. In silico algorithms do not predict a damaging effect to the function of the canonical protein (REVEL=0.453). This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature. Given the lack of compelling evidence for its pathogenicity, the c.10460C>T p.(Thr3487Ile) variant identified in the APOB gene is reported as a Variant of Uncertain Significance.

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