ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.11257T>C (p.Phe3753Leu) (rs61741974)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000270662 SCV000426973 uncertain significance Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325685 SCV000426974 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000419673 SCV000534279 uncertain significance not provided 2016-12-16 criteria provided, single submitter clinical testing The F3753L variant in the APOB gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Although not present in the homozygous state, the NHLBI ESP Exome Sequencing Project reports F3753L was observed with a frequency of 0.77% (34/4406 alleles) in individuals of African American background, indicating it may be a rare variant in this population. The F3753L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret F3753L as a variant of uncertain significance.
Invitae RCV000419673 SCV000659251 benign not provided 2018-06-08 criteria provided, single submitter clinical testing
Color RCV000776251 SCV000911503 likely benign Familial hypercholesterolemias 2018-03-26 criteria provided, single submitter clinical testing

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