ClinVar Miner

Submissions for variant NM_012472.6(DNAAF11):c.1324C>T (p.Arg442Ter)

gnomAD frequency: 0.00003  dbSNP: rs369985188
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000813498 SCV000953860 uncertain significance Primary ciliary dyskinesia 19 2021-12-22 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 656966). This variant has not been reported in the literature in individuals affected with LRRC6-related conditions. This variant is present in population databases (rs369985188, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg442*) in the LRRC6 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 25 amino acid(s) of the LRRC6 protein.
Breakthrough Genomics, Breakthrough Genomics RCV004693351 SCV005196114 uncertain significance not provided criteria provided, single submitter not provided

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