ClinVar Miner

Submissions for variant NM_012472.6(DNAAF11):c.1226+1G>A

dbSNP: rs1815572053
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001066754 SCV001231772 pathogenic Primary ciliary dyskinesia 19 2021-09-01 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 11 of the LRRC6 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of primary ciliary dyskinesia (PMID: 27637300; Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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