Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000579344 | SCV000335759 | pathogenic | not provided | 2015-09-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000579344 | SCV000680761 | pathogenic | not provided | 2022-04-13 | criteria provided, single submitter | clinical testing | Canonical splice site variant expected to result in aberrant splicing; sequencing of cDNA prepared from patient fibroblasts demonstrated in-frame deletion of 18 amino acid codons in the triple helical domain, consistent with exon skip (Griffith et al., 1998); Deletions involving coding exons in this gene are frequently reported as pathogenic, regardless of frame prediction (HGMD); Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 17236192, 34589056, 19449424, 25240749, 25525159, 9529347, 28983407, 25073711, 30020262, 33502061, 34006472, 33951325) |
Ambry Genetics | RCV000623510 | SCV000741536 | pathogenic | Inborn genetic diseases | 2016-06-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000579344 | SCV002233649 | pathogenic | not provided | 2023-10-23 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 50 of the COL11A1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with Marshall or Stickler syndrome (PMID: 9529347, 19449424, 25240749). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. This variant is also known as IVS50+1G>A. ClinVar contains an entry for this variant (Variation ID: 39776). Studies have shown that disruption of this splice site results in skipping of exon 51, but is expected to preserve the integrity of the reading-frame (PMID: 9529347). For these reasons, this variant has been classified as Pathogenic. |
Institute Of Human Genetics Munich, |
RCV002468558 | SCV002764981 | pathogenic | Stickler syndrome type 2 | 2021-04-22 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000579344 | SCV002817261 | pathogenic | not provided | 2021-08-17 | criteria provided, single submitter | clinical testing | The majority of patients reported with this variant are described as having Marshall syndrome (PMID 17236192, 9529347, 19449424, 3002026, 25073711) although some are also described as having Stickler syndrome (PMID 97928857, 25240749). This variant segregates with disease in multiple families (PMID 9529347, 30020262, 25073711). Computational tools yielded predictions that this variant may interfere with normal RNA splicing. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org).This observation is not an independent occurrence and has been identified in the same individual by RCIGM, the other laboratory participating in the GEMINI study. |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV003313929 | SCV004013169 | pathogenic | COL11A1-related disorder | 2023-05-03 | criteria provided, single submitter | clinical testing | PS3, PS4, PM2, PM6, PP1, PP3_Strong |
OMIM | RCV000032995 | SCV000038953 | pathogenic | Marshall syndrome | 2007-02-01 | no assertion criteria provided | literature only | |
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, |
RCV000032995 | SCV001482318 | pathogenic | Marshall syndrome | 2019-05-31 | no assertion criteria provided | research |