ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.1609T>G (p.Tyr537Asp)

dbSNP: rs1784321972
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068332 SCV001233438 uncertain significance Primary ciliary dyskinesia 2019-02-07 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with aspartic acid at codon 537 of the DNAH11 protein (p.Tyr537Asp). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DNAH11-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: "Tolerated"; 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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