ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.12969G>C (p.Gln4323His) (rs191802172)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150459 SCV000197645 uncertain significance not specified 2013-12-27 criteria provided, single submitter clinical testing The Gln4323His variant in DNAH11 has not been previously identified in individua ls with pulmonary disease. This variant has been identified in 1/2178 chromosome s from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.g ov/variation/tools/1000genomes/; dbSNP rs191802172). Glutamine at position 4223 is not well conserved in evolution, and the variant residue (Histidine) has been observed in one mammalian species (Egyptian Jerboa), suggesting that the change may be tolerated. Additional computational analyses (biochemical amino acid pro perties, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or ag ainst an impact to the protein. In summary, additional information is needed to fully assess its clinical significance.
Invitae RCV000468438 SCV000551756 likely benign Primary ciliary dyskinesia 2019-05-09 criteria provided, single submitter clinical testing

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