ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.470G>A (p.Gly157Glu) (rs185011953)

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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 RCV000150424 SCV000197604 uncertain significance not specified 2013-12-27 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Gly157Glu varia nt in DNAH11 has not been previously identified in individuals with pulmonary di sease. This variant has been identified in 0.19% (7/3676) African American chrom osomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs185011953). The Glycine residue at this position is not well conserved across evolutionarily distant species, and the variant residue (Glutamic acid) h as been observed in two mammalian species (shrew and platypus). Additional compu tational analyses (biochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, the lack of evolutionary conservation suggests that this variant may be more likely benign, but additional information is needed to fully assess its cl inical significance.
Invitae RCV000862582 SCV001003104 likely benign Primary ciliary dyskinesia 2019-12-31 criteria provided, single submitter clinical testing

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