ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.3194A>G (p.Asp1065Gly)

gnomAD frequency: 0.00001  dbSNP: rs1269889816
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219784 SCV001391740 uncertain significance Primary ciliary dyskinesia 2019-07-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 1065 of the DNAH11 protein (p.Asp1065Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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