ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.11509G>T (p.Ala3837Ser)

gnomAD frequency: 0.00004  dbSNP: rs1389480980
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute, Western University RCV000660661 SCV000782797 uncertain significance Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001838080 SCV001392677 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2019-07-24 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with APOB-related conditions. ClinVar contains an entry for this variant (Variation ID: 548035). This sequence change replaces alanine with serine at codon 3837 of the APOB protein (p.Ala3837Ser). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and serine.
Ambry Genetics RCV003303091 SCV004000640 uncertain significance Cardiovascular phenotype 2023-05-21 criteria provided, single submitter clinical testing The p.A3837S variant (also known as c.11509G>T), located in coding exon 26 of the APOB gene, results from a G to T substitution at nucleotide position 11509. The alanine at codon 3837 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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