ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.8642C>G (p.Ala2881Gly) (rs727502973)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000556876 SCV000197656 likely pathogenic Primary ciliary dyskinesia 2013-11-22 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Invitae RCV000556876 SCV000624302 pathogenic Primary ciliary dyskinesia 2020-10-26 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 2881 of the DNAH5 protein (p.Ala2881Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine. This variant is present in population databases (rs727502973, ExAC 0.003%). This variant has been reported in combination with other DNAH5 variants in individuals affected with primary ciliary dyskinesia (PMID: 25186273, 26373788, Invitae). ClinVar contains an entry for this variant (Variation ID: 163139). 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 tolerated, but these predictions have not been confirmed by published functional studies. For these reasons, this variant has been classified as Pathogenic.

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