ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.12701A>G (p.Glu4234Gly)

gnomAD frequency: 0.00001  dbSNP: rs370456053
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546766 SCV000623986 uncertain significance Primary ciliary dyskinesia 2017-05-27 criteria provided, single submitter clinical testing In summary, this variant has uncertain impact on DNAH8 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with a DNAH8-related disease. This variant is present in population databases (rs370456053, ExAC 0.002%). This sequence change replaces glutamic acid with glycine at codon 4234 of the DNAH8 protein (p.Glu4234Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine.

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