ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.7472G>A (p.Arg2491His)

dbSNP: rs369438218
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000468903 SCV000551716 benign Primary ciliary dyskinesia 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV001764434 SCV001999735 uncertain significance not provided 2020-01-09 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV000468903 SCV002671738 uncertain significance Primary ciliary dyskinesia 2024-06-14 criteria provided, single submitter clinical testing The c.7472G>A (p.R2491H) alteration is located in exon 46 (coding exon 46) of the DNAH11 gene. This alteration results from a G to A substitution at nucleotide position 7472, causing the arginine (R) at amino acid position 2491 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004529599 SCV004111004 uncertain significance DNAH11-related disorder 2022-12-06 criteria provided, single submitter clinical testing The DNAH11 c.7472G>A variant is predicted to result in the amino acid substitution p.Arg2491His. To our knowledge, this variant has not been reported in the literature. At PreventionGenetics, this variant has been reported along with a 2nd likely pathogenic variant in an individual tested for heterotaxy (Internal Data). Additionally, a different missense variant affecting this amino acid (p.Arg2491Pro), has been reported along with another pathogenic in the compound heterozygous state in an individual with primary ciliary dyskinesia (Table S3 - Fassad et al. 2020. PubMed ID: 31879361). This variant is reported in 0.043% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-21775289-G-A). Although we suspect that this variant may be pathogenic, 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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