ClinVar Miner

Submissions for variant NM_031427.4(DNAL1):c.43-4A>G

gnomAD frequency: 0.00001  dbSNP: rs748496499
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250498 SCV000314774 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000557911 SCV000650793 uncertain significance Primary ciliary dyskinesia 16 2019-05-16 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the DNAL1 gene. It does not directly change the encoded amino acid sequence of the DNAL1 protein. This variant is present in population databases (rs748496499, ExAC 0.04%). This variant has not been reported in the literature in individuals with a DNAL1-related disease. ClinVar contains an entry for this variant (Variation ID: 261960). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant has uncertain impact on DNAL1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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