ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.10817C>T (p.Thr3606Met)

gnomAD frequency: 0.00006  dbSNP: rs758157645
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800223 SCV000939923 uncertain significance Primary ciliary dyskinesia 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 3606 of the DNAH8 protein (p.Thr3606Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs758157645, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with DNAH8-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C65"). 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.

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