Total submissions: 8
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, |
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. |
Gene |
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, |
RCV000667327 | SCV002017298 | likely pathogenic | Kartagener syndrome | 2021-01-25 | criteria provided, single submitter | clinical testing | |
Johns Hopkins Genomics, |
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, |
RCV000552711 | SCV002085134 | likely pathogenic | Primary ciliary dyskinesia | 2020-07-17 | no assertion criteria provided | clinical testing |