ClinVar Miner

Submissions for variant NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter)

gnomAD frequency: 0.00010  dbSNP: rs201740530
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000556639 SCV000654672 pathogenic Primary ciliary dyskinesia 28 2023-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln672*) in the SPAG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPAG1 are known to be pathogenic (PMID: 24055112). This variant is present in population databases (rs201740530, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with primary ciliary dyskinesia (PMID: 24055112, 26228299, 27637300). ClinVar contains an entry for this variant (Variation ID: 88683). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000556639 SCV000893774 pathogenic Primary ciliary dyskinesia 28 2018-10-31 criteria provided, single submitter clinical testing
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001255310 SCV001431753 likely pathogenic Primary ciliary dyskinesia 2018-10-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000556639 SCV002021912 pathogenic Primary ciliary dyskinesia 28 2019-09-28 criteria provided, single submitter clinical testing
GeneDx RCV002293416 SCV002586553 pathogenic not provided 2023-06-21 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 24055112, 27637300, 26228299, 34426522, 34066907, 35178554, 35877578, 31345219)
Department of Human Genetics, Hannover Medical School RCV000556639 SCV005200390 pathogenic Primary ciliary dyskinesia 28 2024-08-30 criteria provided, single submitter clinical testing
OMIM RCV000074366 SCV000105973 pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 5 2013-10-03 no assertion criteria provided literature only
GeneReviews RCV000190929 SCV000245815 not provided Kartagener syndrome no assertion provided literature only
Yale Center for Mendelian Genomics, Yale University RCV001255310 SCV002106467 likely pathogenic Primary ciliary dyskinesia 2018-08-01 no assertion criteria provided literature only

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