ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.288G>T (p.Gln96His) (rs186544754)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000289349 SCV000427188 uncertain significance Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344371 SCV000427189 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000522955 SCV000619075 uncertain significance not provided 2017-07-13 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the APOB gene. The Q96H variant has been reported in three Chinese patients referred for coronary angiography and subsequently diagnosed with FH (Li et al., 2017); however, additional clinical information was not provided. This variant is observed in 0.54%-1% alleles from individuals of East Asian background in large population cohorts, which is greater than expected for this disorder (Lek et al., 2016; McVean et al., 2012; Exome Variant Server). This substitution occurs at a position that is not conserved across species and where histidine (H) is present as the wild type in at least one species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Nevertheless, the Q96H variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties.
Invitae RCV000525925 SCV000659275 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2017-10-06 criteria provided, single submitter clinical testing
Color RCV000289349 SCV000687223 likely benign Familial hypercholesterolemia 2017-06-01 criteria provided, single submitter clinical testing
Color RCV000776117 SCV000910991 benign Familial hypercholesterolemias 2018-06-28 criteria provided, single submitter clinical testing

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