ClinVar Miner

Submissions for variant NM_001372.4(DNAH9):c.6847+5G>A

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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 RCV003092996 SCV003484551 uncertain significance not provided 2023-04-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2168819). This variant has not been reported in the literature in individuals affected with DNAH9-related conditions. This variant is present in population databases (rs373262690, gnomAD 0.01%). This sequence change falls in intron 34 of the DNAH9 gene. It does not directly change the encoded amino acid sequence of the DNAH9 protein. It affects a nucleotide within the consensus splice site. 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. 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.
PreventionGenetics, part of Exact Sciences RCV003898798 SCV004714204 likely benign DNAH9-related disorder 2024-01-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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