ClinVar Miner

Submissions for variant NM_012472.6(DNAAF11):c.598_599del (p.Lys200fs) (rs397515424)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000033016 SCV000772166 pathogenic Ciliary dyskinesia, primary, 19 2019-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys200Glufs*3) in the LRRC6 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs397515424, ExAC 0.01%). This variant has been reported as homozygous or in combination with other LRRC6 variants in several individuals affected with primary ciliary dyskinesia (PMID: 23122589, 23891469, 27637300). ClinVar contains an entry for this variant (Variation ID: 39794). Loss-of-function variants in LRRC6 are known to be pathogenic (PMID: 23122589). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000033016 SCV000056796 pathogenic Ciliary dyskinesia, primary, 19 2012-11-02 no assertion criteria provided literature only
GeneReviews RCV000033016 SCV000086958 pathologic Ciliary dyskinesia, primary, 19 2011-09-15 no assertion criteria provided curation Converted during submission to Pathogenic.

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