ClinVar Miner

Submissions for variant NM_178172.6(GPIHBP1):c.230G>A (p.Cys77Tyr)

dbSNP: rs780340378
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GBinsight Genetic Testing by GB HealthWatch, Genben Lifesciences Corporation RCV001175121 SCV001312676 likely pathogenic Hyperlipoproteinemia, type 1D 2020-05-27 no assertion criteria provided clinical testing Proband referred for clinical genetic testing presented with syndrome consistent with familial chylomicronemia syndrome with severe hypertriglyceridemia, low HDL-cholesterol and type 2 diabetes. Clinical genetic testing identified homozygosity for the Cys77Tyr (NM_178172.6:c.230G>A) genetic variant in the the germline. Phenotype segregated with genotype in family members.

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