ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.574G>A (p.Ala192Thr) (rs140700961)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585417 SCV000693165 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing
Counsyl RCV000666957 SCV000791334 uncertain significance Ciliary dyskinesia, primary, 3 2017-05-08 criteria provided, single submitter clinical testing
Invitae RCV000206793 SCV000259754 uncertain significance Primary ciliary dyskinesia 2018-10-29 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 192 of the DNAH5 protein (p.Ala192Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs140700961, ExAC 0.03%) but has not been reported in the literature in individuals with a DNAH5-related disease. ClinVar contains an entry for this variant (Variation ID: 219719). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function, and is found in the population at an appreciable frequency. This variant is not anticipated to cause disease; however, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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