ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9077A>T (p.Asn3026Ile) (rs770981667)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813509 SCV000953871 uncertain significance Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2019-05-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine with isoleucine at codon 3026 of the APOB protein (p.Asn3026Ile). The asparagine residue is highly conserved and there is a large physicochemical difference between asparagine and isoleucine. This variant is present in population databases (rs770981667, ExAC 0.003%). This variant has not been reported in the literature in individuals with APOB-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000997052 SCV001152129 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
Color RCV001187656 SCV001354510 uncertain significance Familial hypercholesterolemia 2019-09-17 criteria provided, single submitter clinical testing

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