ClinVar Miner

Submissions for variant NM_003114.5(SPAG1):c.2542del (p.Asp848fs)

dbSNP: rs886037653
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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 RCV001058984 SCV001223587 pathogenic Primary ciliary dyskinesia 28 2019-12-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SPAG1 are known to be pathogenic (PMID: 24055112). This variant has been observed in individual(s) with primary ciliary dyskinesia (PMID: 24055112). ClinVar contains an entry for this variant (Variation ID: 88684). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp848Ilefs*10) in the SPAG1 gene. It is expected to result in an absent or disrupted protein product.
OMIM RCV000074367 SCV000105974 pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 5 2013-10-03 no assertion criteria provided literature only

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