ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.3139G>A (p.Glu1047Lys)

gnomAD frequency: 0.00026  dbSNP: rs77008420
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001346444 SCV001540648 likely benign Primary ciliary dyskinesia 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001655716 SCV001871275 uncertain significance not provided 2021-08-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
PreventionGenetics, part of Exact Sciences RCV003426054 SCV004117329 uncertain significance DNAH11-related condition 2023-02-06 criteria provided, single submitter clinical testing The DNAH11 c.3139G>A variant is predicted to result in the amino acid substitution p.Glu1047Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.099% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-21640432-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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