ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10182G>T (p.Lys3394Asn) (rs1382988295)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000505259 SCV000599289 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter curation
Invitae RCV001043807 SCV001207572 pathogenic Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2020-01-06 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 3394 of the APOB protein (p.Lys3394Asn). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with familial hypercholesterolemia in a family (PMID: 22408029). ClinVar contains an entry for this variant (Variation ID: 438310). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt APOB protein function. For these reasons, this variant has been classified as Pathogenic.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000505259 SCV000605969 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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