ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.4117-2A>G

dbSNP: rs1467301649
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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 RCV001849588 SCV003488461 pathogenic Primary ciliary dyskinesia 2021-12-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Disruption of this splice site has been observed in individual(s) with primary ciliary dyskinesia (PMID: 30067075; Invitae). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change affects an acceptor splice site in intron 26 of the DNAH5 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867).
Yale Center for Mendelian Genomics, Yale University RCV001849588 SCV002106435 likely pathogenic Primary ciliary dyskinesia 2018-08-01 no assertion criteria provided literature only

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