ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.4984G>C (p.Asp1662His)

dbSNP: rs778565448
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Total submissions: 1
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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 RCV000825329 SCV000966624 uncertain significance not specified 2018-07-05 criteria provided, single submitter clinical testing The p.Asp1662His variant in DNAH11 has not been previously reported in individua ls with primary ciliary dyskinesia, but has been identified in 1/111064 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinst itute.org). Computational prediction tools and conservation analysis suggest tha t the p.Asp1662His variant may not impact the protein, though this information i s not predictive enough to rule out pathogenicity. In summary, the clinical sign ificance of the p.Asp1662His variant is uncertain. ACMG/AMP criteria applied: PM 2, BP4.

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