ClinVar Miner

Submissions for variant NM_000078.3(CETP):c.663C>A (p.Ser221Arg)

gnomAD frequency: 0.00019  dbSNP: rs201438792
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000304386 SCV000398209 benign Hyperalphalipoproteinemia 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000304386 SCV001435226 likely benign Hyperalphalipoproteinemia 1 criteria provided, single submitter research The heterozygous p.Ser221Arg variant in CETP has been identified in an individual with a lower HDL cholesterol level (PMID: 24497850) and has been identified in >2% of South Asian chromosomes and 5 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely benign for a lower HDL cholesterol level.
Labcorp Genetics (formerly Invitae), Labcorp RCV001516177 SCV001724415 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001516177 SCV001833471 benign not provided 2020-11-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533, 24497850)
Fulgent Genetics, Fulgent Genetics RCV000304386 SCV002806306 likely benign Hyperalphalipoproteinemia 1 2021-10-08 criteria provided, single submitter clinical testing

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