ClinVar Miner

Submissions for variant NM_005505.5(SCARB1):c.1127C>T (p.Pro376Leu)

gnomAD frequency: 0.00068  dbSNP: rs74830677
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000239517 SCV000996267 pathogenic High density lipoprotein cholesterol level quantitative trait locus 6 2019-03-22 criteria provided, single submitter clinical testing This variant has been previously reported as a heterozygous or homozygous change in patients with high HDL cholesterol and coronary heart disease risk (PMID: 26965621). In vitro and in vivo studies show that in the heterozygous state this variant causes a profound reduction in HDL uptake (PMID: 26965621). This variant is present in the heterozygous state in the gnomAD population database at a frequency of .09% (254/277086) and thus is presumed to be rare. However, it is more common in some ethnic groups, reaching allele frequencies of 2%. In silico tools used to predict the effect of this variant on protein function yield discordant results. Based on the available evidence, the c.1127C>T (p.Pro376Leu) variant is classified as pathogenic .
Invitae RCV002057272 SCV002481312 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
OMIM RCV000239517 SCV000297889 association High density lipoprotein cholesterol level quantitative trait locus 6 2018-07-20 no assertion criteria provided literature only

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