ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.9815A>G (p.Asn3272Ser)

dbSNP: rs1554281016
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629489 SCV000750433 uncertain significance Primary ciliary dyskinesia 2017-08-23 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with DNAH11-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 3272 of the DNAH11 protein (p.Asn3272Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine.
PreventionGenetics, part of Exact Sciences RCV003953106 SCV004768689 uncertain significance DNAH11-related condition 2023-12-15 criteria provided, single submitter clinical testing The DNAH11 c.9815A>G variant is predicted to result in the amino acid substitution p.Asn3272Ser. This variant has been reported together with second DNAH11 variant in an individual with suspected Primary Ciliary Dyskinesia (Table 1, Staar et al. 2023. PubMed ID: 37998386). This variant has not bee reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. 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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