ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.6572T>C (p.Leu2191Ser)

gnomAD frequency: 0.00001  dbSNP: rs766444813
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002536700 SCV002988671 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-01-01 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 630288). This variant has not been reported in the literature in individuals affected with APOB-related conditions. This variant is present in population databases (rs766444813, gnomAD 0.001%). This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2191 of the APOB protein (p.Leu2191Ser).
GeneDx RCV003128693 SCV003805572 uncertain significance not provided 2022-08-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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