ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.8705G>A (p.Ser2902Asn)

dbSNP: rs1663202818
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001838428 SCV001377015 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2019-10-10 criteria provided, single submitter clinical testing 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in an individual with clinical features of familial hypercholesterolemia (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with asparagine at codon 2902 of the APOB protein (p.Ser2902Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine.

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