ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.8030G>A (p.Arg2677Gln) (rs886043448)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000369132 SCV000340209 uncertain significance not provided 2016-03-22 criteria provided, single submitter clinical testing
Invitae RCV000558292 SCV000624296 pathogenic Primary ciliary dyskinesia 2020-08-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 2677 of the DNAH5 protein (p.Arg2677Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been reported as homozygous in an individual affected with primary ciliary dyskinesia (PMID: 24150548). It has also been observed in at least 2 individuals with primary ciliary dyskinesia in the Invitae database. In each case, the individual carried a second rare or pathogenic variant in DNAH5. While it is unknown if these two variants are on the same or opposite chromosomes, this observation suggests the c.8030G>A substitution may contribute to the cause of disease. ClinVar contains an entry for this variant (Variation ID: 286676). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University RCV001257434 SCV001433991 likely pathogenic Ciliary dyskinesia, primary, 3 2020-07-07 no assertion criteria provided clinical testing

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