ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.10195G>A (p.Val3399Ile) (rs749397968)

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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, Partners HealthCare Personalized Medicine RCV000613757 SCV000713845 uncertain significance not specified 2018-01-26 criteria provided, single submitter clinical testing The p.Val3399Ile variant in DNAH5 has not been previously reported in individua ls with primary ciliary dyskinesia, but has been identified in 0.06% (19/30778) of South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gn omad.broadinstitute.org; dbSNP rs749397968). Computational prediction tools and conservation analysis suggest that the p.Val3399Ile variant may impact the prote in, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Val3399Ile variant is uncertain. ACMG/AMP Criteria applied: PP3.
Invitae RCV000629269 SCV000750204 uncertain significance Primary ciliary dyskinesia 2017-12-05 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 3399 of the DNAH5 protein (p.Val3399Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs749397968, ExAC 0.06%). This variant has not been reported in the literature in individuals with DNAH5-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000629269 SCV001452266 uncertain significance Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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