ClinVar Miner

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

gnomAD frequency: 0.00046  dbSNP: rs200488444
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552711 SCV000624336 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
Counsyl RCV000667327 SCV000791759 likely pathogenic Kartagener syndrome 2017-05-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, 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.
GeneDx RCV001551769 SCV001772342 likely pathogenic not provided 2019-07-03 criteria provided, single submitter clinical testing Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; Reported in the published literature (LaDuca et al., 2017) without clinical information, segregation evidence, or evidence in support of pathogenicity provided; This variant is associated with the following publications: (PMID: 31589614, 28152038)
Revvity Omics, Revvity RCV000667327 SCV002017298 likely pathogenic Kartagener syndrome 2021-01-25 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000667327 SCV002570294 uncertain significance Kartagener syndrome 2022-02-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000552711 SCV002619882 likely pathogenic Primary ciliary dyskinesia 2019-10-31 criteria provided, single submitter clinical testing The c.389-1G>C intronic variant results from a G to C substitution one nucleotide upstream from coding exon 6 of the DNAI1 gene. This nucleotide position is highly conserved in available vertebrate species. Using the ESEfinder and Human Splicing Finder (HSF) splice site prediction tools, this alteration is predicted to abolish or weaken the native splice acceptor site; however, direct evidence is unavailable (Desmet FO et al. Nucleic Acids Res. 2009 May;37:e67). Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.
Natera, Inc. RCV000552711 SCV002085134 likely pathogenic Primary ciliary dyskinesia 2020-07-17 no assertion criteria provided clinical testing

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