ClinVar Miner

Submissions for variant NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter)

gnomAD frequency: 0.00004  dbSNP: rs926347298
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224667 SCV001396881 pathogenic Primary ciliary dyskinesia 2023-09-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr404*) in the DNAI1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAI1 are known to be pathogenic (PMID: 16858015, 29363216). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 952542). This premature translational stop signal has been observed in individuals with clinical features of primary ciliary dyskinesia (PMID: 16858015, 21270641). This variant is present in population databases (no rsID available, gnomAD 0.007%).
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001224667 SCV001431608 likely pathogenic Primary ciliary dyskinesia 2019-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001224667 SCV002659694 pathogenic Primary ciliary dyskinesia 2022-09-30 criteria provided, single submitter clinical testing The p.Y404* pathogenic mutation (also known as c.1212T>G), located in coding exon 13 of the DNAI1 gene, results from a T to G substitution at nucleotide position 1212. This changes the amino acid from a tyrosine to a stop codon within coding exon 13. This alteration has been detected in trans with another DNAI1 pathogenic mutation in an individual with primary ciliary dyskinesia and dextrocardia (Zariwala MA et al. Am J Respir Crit Care Med, 2006 Oct;174:858-66). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003234003 SCV003932272 likely pathogenic Kartagener syndrome 2023-01-31 criteria provided, single submitter clinical testing PVS1, PM2

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