ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6302A>G (p.Asn2101Ser) (rs201618995)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229432 SCV000287017 likely benign Primary ciliary dyskinesia 2020-11-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000229432 SCV000468128 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000657850 SCV000779607 uncertain significance not provided 2018-05-30 criteria provided, single submitter clinical testing The N2101S variant in the DNAH11 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The N2101S variant is observed in 143/276478 (0.05%) alleles in large population cohorts (Lek et al., 2016). The N2101S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret N2101S as a variant of uncertain significance.

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