ClinVar Miner

Submissions for variant NM_012144.4(DNAI1):c.389-1G>C (rs200488444)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667327 SCV000791759 likely pathogenic Kartagener syndrome 2017-05-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000667327 SCV000915281 uncertain significance Kartagener syndrome 2018-10-23 criteria provided, single submitter clinical testing The DNAI1 c.389-1G>C variant occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. The variant is reported at a frequency of 0.00246 in the Ashkenazi Jewish population from the Genome Aggregation Database and includes one homozygous individual. Due to the potential impact of splice acceptor variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for primary ciliary dyskinesia.This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV000552711 SCV000624336 likely pathogenic Primary ciliary dyskinesia 2019-01-09 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 5 of the DNAI1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs200488444, ExAC 0.1%). This variant has not been reported in the literature in individuals with DNAI1-related disease. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DNAI1 are known to be pathogenic (PMID: 16858015). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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