ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.2783A>T (p.Asp928Val)

gnomAD frequency: 0.00089  dbSNP: rs201386161
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003389641 SCV000307483 uncertain significance DNAH11-related condition 2022-12-22 criteria provided, single submitter clinical testing The DNAH11 c.2783A>T variant is predicted to result in the amino acid substitution p.Asp928Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.16% of alleles in individuals of European (Non-Finnish) descent including 1 homozygous individual in gnomAD (http://gnomad.broadinstitute.org/variant/7-21639520-A-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Invitae RCV000459210 SCV000551712 likely benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV000459210 SCV001431748 uncertain significance Primary ciliary dyskinesia 2018-09-26 criteria provided, single submitter clinical testing
GeneDx RCV001567623 SCV001791343 uncertain significance not provided 2020-03-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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