ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1205T>C (p.Leu402Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics,Fundacion Jimenez Diaz University Hospital RCV001270354 SCV001450580 likely pathogenic Retinal dystrophy criteria provided, single submitter clinical testing The variant is present in population databases (gnomAD_exomes 0.004%). Is a missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease. This variant is predicted deleterious by in-silico pathogenicity predictors. This variant cosegregates with the disease in two affected sisters. (ACMG: PM2: Moderate; PP1 Supporting; PP2 Supporting; PP3 Supporting)

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