ClinVar Miner

Submissions for variant NM_016145.4(WDR83OS):c.50+1G>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV004696611 SCV005187361 pathogenic Hypercholanemia, familial 2024-08-13 criteria provided, single submitter clinical testing This variant was identified as homozygous in one Turkish individual with neurodevelopmental delay. The variant is absent in gnomAD. In vivo studies in zebrafish suggest wdr83os loss of function is responsible for the human phenotype observed. Other variants in this gene were identified in association with neurodevelopmental delay and hypercholanemia, although bile salt measurements were not available for this patient/variant.
OMIM RCV004794694 SCV005415395 pathogenic Neurodevelopmental disorder with variable familial hypercholanemia 2024-11-25 no assertion criteria provided literature only

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