ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.6304C>T (p.Arg2102Cys) (rs767019228)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457921 SCV000546301 pathogenic Primary ciliary dyskinesia 2020-07-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 2102 of the DNAH5 protein (p.Arg2102Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs767019228, ExAC 0.009%). This variant has been observed in combination with a pathogenic DNAH5 variant in multiple individuals diagnosed with primary ciliary dyskinesia (Invitae). ClinVar contains an entry for this variant (Variation ID: 407218). 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: Deleterious; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268786 SCV001447967 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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