ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.12569G>A (p.Gly4190Asp) (rs374787771)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660496 SCV000782595 uncertain significance Ciliary dyskinesia, primary, 7 2017-03-03 criteria provided, single submitter clinical testing
Invitae RCV001036806 SCV001200189 uncertain significance Primary ciliary dyskinesia 2019-02-12 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 4190 of the DNAH11 protein (p.Gly4190Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs374787771, 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: 547926). 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: "Probably 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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