ClinVar Miner

Submissions for variant NM_012472.6(DNAAF11):c.436G>C (p.Asp146His) (rs200321595)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000033020 SCV000772163 pathogenic Ciliary dyskinesia, primary, 19 2020-02-18 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with histidine at codon 146 of the LRRC6 protein (p.Asp146His). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and histidine. This variant is present in population databases (rs200321595, ExAC 0.04%). This variant has been observed in individual(s) with primary ciliary dyskinesia (PMID: 23527195, 23891469, 23122589). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 39798). This variant has been reported to affect LRRC6 protein function (PMID: 23527195). For these reasons, this variant has been classified as Pathogenic.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000033020 SCV001368647 pathogenic Ciliary dyskinesia, primary, 19 2019-08-20 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PS3,PM2,PP3.
OMIM RCV000033020 SCV000056800 pathogenic Ciliary dyskinesia, primary, 19 2012-11-02 no assertion criteria provided literature only
GeneReviews RCV000033020 SCV000086955 pathologic Ciliary dyskinesia, primary, 19 2011-09-15 no assertion criteria provided curation Converted during submission to Pathogenic.

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