ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.2947A>T (p.Lys983Ter)

dbSNP: rs2547037313
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002309534 SCV002603912 likely pathogenic Primary ciliary dyskinesia 3 2022-04-04 criteria provided, single submitter clinical testing NM_001369.2(DNAH5):c.2947A>T(K983*) is expected to be pathogenic in the context of DNAH5-related primary ciliary dyskinesia. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in DNAH5, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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