ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.6962_6968del (p.His2321fs)

dbSNP: rs752692263
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003652117 SCV004553995 pathogenic Primary ciliary dyskinesia 2023-06-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 984742). This premature translational stop signal has been observed in individual(s) with DNAH8-related conditions (PMID: 32619401). This variant is present in population databases (rs752692263, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.His2321Profs*4) in the DNAH8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAH8 are known to be pathogenic (PMID: 24307375, 32619401, 32681648).
OMIM RCV001265119 SCV001443149 pathogenic Spermatogenic failure 46 2020-11-13 no assertion criteria provided literature only

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