ClinVar Miner

Submissions for variant NM_172218.2(SPAG1):c.2014C>T (p.Gln672Ter) (rs201740530)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556639 SCV000654672 pathogenic Ciliary dyskinesia, primary, 28 2018-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 672 (p.Gln672*) of 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. This particular variant has been reported in the literature in several individuals affected with primary ciliary dyskinesia (PMID: 24055112, 26228299, 27637300). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000556639 SCV000893774 pathogenic Ciliary dyskinesia, primary, 28 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000074366 SCV000105973 pathogenic Epilepsy, nocturnal frontal lobe, 5 2013-10-03 no assertion criteria provided literature only
GeneReviews RCV000190929 SCV000245815 pathogenic Kartagener syndrome 2015-09-03 no assertion criteria provided literature only

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