ClinVar Miner

Submissions for variant NM_001193466.2(KANSL1):c.1410C>A (p.Tyr470Ter) (rs776206707)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579076 SCV000681001 uncertain significance not specified 2017-07-25 criteria provided, single submitter clinical testing The Y470X variant in the KANSL1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y470X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. This variant has been seen apparently de novo.

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