ClinVar Miner

Submissions for variant NM_001010892.3(RSPH4A):c.1490dup (p.Ser498fs)

gnomAD frequency: 0.00003  dbSNP: rs762267064
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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 RCV001040130 SCV001203690 pathogenic Primary ciliary dyskinesia 2024-07-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser498Glnfs*10) in the RSPH4A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RSPH4A are known to be pathogenic (PMID: 19200523). This variant is present in population databases (rs762267064, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with clinical features of primary ciliary dyskinesia (Invitae). ClinVar contains an entry for this variant (Variation ID: 838557). For these reasons, this variant has been classified as Pathogenic.
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001040130 SCV001431597 likely pathogenic Primary ciliary dyskinesia 2019-09-26 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004792647 SCV005413749 likely pathogenic not provided 2024-01-03 criteria provided, single submitter clinical testing PM3_supporting, PVS1

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