ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.11092A>G (p.Arg3698Gly) (rs757756141)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000786107 SCV000924753 uncertain significance not provided 2017-06-27 no assertion criteria provided provider interpretation p.Arg3695Gly (c.11092A>G; p.R3698G; chr2-21228648-T-C) in exon 26 of the APOB gene (NM_000384.2) Given the lack of case data on this variant, and the low prevalence of this variant in the general population, we consider this variant a variant of uncertain significance and we do not feel it is suitable for assessing risk in healthy relatives ("predictive genetic testing"). There is no case data available for review pertaining to this variant. The arginine at codon 3695 is poorly conserved across species. Neighboring amino acids are also poorly conserved. No other nearby variants at this codon or nearby codons have been reported in association with disease. The variant was reported online in 2 of 122,669 individuals in the Genome Aggregation Consortium Dataset (gnomAD; http://gnomad.broadinstitute.org/), which currently includes variant calls on >140,000 unrelated individuals of African, Asian, European, Ashkenazi, Latino descent. Specifically, the variant was observed in 2 of 55,657 individuals of European descent (MAF=0.002%). The phenotype of those individuals is not publicly available. The dataset is comprised of multiple cohorts, some of which were recruited from the general population, others were enriched for common cardiovascular disease.

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