ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.5563dup (p.Ile1855fs) (rs752925056)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475541 SCV000546329 pathogenic Primary ciliary dyskinesia 2020-08-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile1855Asnfs*6) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs752925056, ExAC 0.03%). This variant has been reported in families affected with primary ciliary dyskinesia (PMID: 11788826, 26228299, 25186273). ClinVar contains an entry for this variant (Variation ID: 407241). Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). For these reasons, this variant has been classified as Pathogenic.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198865 SCV001369860 pathogenic Ciliary dyskinesia, primary, 3 2020-03-12 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PP1,PP3.
Natera, Inc. RCV000475541 SCV001457362 pathogenic Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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