ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.10616G>A (p.Arg3539His) (rs769458738)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198195 SCV000254739 pathogenic Primary ciliary dyskinesia 2018-12-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 3539 of the DNAH5 protein (p.Arg3539His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs769458738, ExAC 0.003%). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with primary ciliary dyskinesia (PCD) (PMID: 22416021). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. Additional individuals affected with PCD have been reported to carry this variant along with a second, rare variant in DNAH5 (PMID: 24498942, 22499950, 26373788). ClinVar contains an entry for this variant (Variation ID: 216542). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV000788220 SCV000927262 likely pathogenic not provided 2017-05-12 criteria provided, single submitter clinical testing

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