ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.9499A>C (p.Thr3167Pro) (rs202224167)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000394667 SCV000332258 uncertain significance not provided 2015-06-26 criteria provided, single submitter clinical testing
Invitae RCV000538754 SCV000624186 uncertain significance Primary ciliary dyskinesia 2019-10-21 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 3167 of the DNAH11 protein (p.Thr3167Pro). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and proline. This variant is present in population databases (rs202224167, ExAC 0.02%). This variant has not been reported in the literature in individuals with DNAH11-related conditions. ClinVar contains an entry for this variant (Variation ID: 281471). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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