ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10441G>A (p.Glu3481Lys)

gnomAD frequency: 0.00001  dbSNP: rs727502969
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150451 SCV000197637 uncertain significance not specified 2013-09-27 criteria provided, single submitter clinical testing The Glu3481Lys variant in DNAH11 has not been previously reported in individuals with lung disease or in large population studies. Computational analyses (bioch emical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do n ot provide strong support for or against an impact to the protein. In summary, a dditional studies are needed to fully assess the clinical significance of the Gl u3481Lys variant.
Invitae RCV000705884 SCV000834901 likely benign Primary ciliary dyskinesia 2024-01-04 criteria provided, single submitter clinical testing
3billion RCV002051817 SCV002318706 uncertain significance Primary ciliary dyskinesia 7 2022-03-22 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.0000362). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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