ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.3895G>T (p.Val1299Phe) (rs767853104)

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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, Partners HealthCare Personalized Medicine RCV000612487 SCV000712521 uncertain significance not specified 2016-10-13 criteria provided, single submitter clinical testing The p.Val1299Phe variant in DNAH5 has not been previously reported in individual s with pulmonary disease, but has been identified in 3/66688 of European chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs767853104). Computational prediction tools and conservation analysis sug gest that the p.Val1299Phe variant may impact the protein, though this informati on is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Val1299Phe variant is uncertain.

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