Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
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. |