ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.7805+6C>T

gnomAD frequency: 0.00001  dbSNP: rs370368596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441615 SCV000528599 likely benign not specified 2016-06-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001861572 SCV002198297 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2023-01-19 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. 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 is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 386812). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. This variant is present in population databases (rs370368596, gnomAD 0.1%). This sequence change falls in intron 49 of the DNAH1 gene. It does not directly change the encoded amino acid sequence of the DNAH1 protein. It affects a nucleotide within the consensus splice site.

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