ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3692T>C (p.Ile1231Thr)

dbSNP: rs1663429897
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256752 SCV001433161 uncertain significance not provided 2019-07-05 criteria provided, single submitter clinical testing
New York Genome Center RCV003227946 SCV003925162 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-06-07 criteria provided, single submitter clinical testing The c.3692T>C p.(Ile1231Thr) variant identified in the APOB gene has not previously been reported in the literature and has been deposited in ClinVar as a Variant of Uncertain Significance [VarID:978302]. The c.3692T>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.3692T>C variant is located in exon 23 of this 29-exon gene, and the predicted p.(Ile1231Thr) variant replaces an Isoleucine amino acid with Threonine at position 1231/4564. In silico predictions are not in favor of deleterious effect of the variant on the encoded protein (REVEL= 0.118). Based on available evidence this c.3692T>C p.(Ile1231Thr) variant identified in the APOB gene is classified as a Variant of Uncertain Significance.

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