ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.7118C>T (p.Thr2373Ile)

dbSNP: rs1417267509
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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 RCV002468184 SCV002764410 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2020-11-18 criteria provided, single submitter clinical testing The c.7118C>T (p.Thr2373Ile) variant identified in the APOB gene substitutes a moderately conserved Threonine for Isoleucine at amino acid 2373/4564 (exon 26/29). This variant is absent from gnomAD(v3.0) suggesting it is not a common benign variant in the populations represented in that database. In silico algorithms do not agree on the effect of this variant, as it is predicted both Damaging (SIFT; score:0.024) and Benign (REVEL; score:0.094) to the function of the canonical transcript. This variant is reported in ClinVar (VarID:925059) as a Variant of Uncertain Significance, 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.7118C>T (p.Thr2373Ile) variant identified in the APOB gene is reported as a Variant of Uncertain Significance.

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