ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.3484C>T (p.Gln1162Ter)

gnomAD frequency: 0.00001  dbSNP: rs760081822
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001057512 SCV001222010 pathogenic Primary ciliary dyskinesia 2021-09-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1162*) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). This variant is present in population databases (rs760081822, ExAC 0.002%). This premature translational stop signal has been observed in individuals with primary ciliary dyskinesia (PMID: 27637300). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001542575 SCV005668925 pathogenic Primary ciliary dyskinesia 3 2024-03-08 criteria provided, single submitter clinical testing
Genomics England Pilot Project, Genomics England RCV001542575 SCV001760153 pathogenic Primary ciliary dyskinesia 3 no assertion criteria provided clinical testing

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