Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001852431 | SCV002230776 | pathogenic | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-05-19 | criteria provided, single submitter | clinical testing | Disruption of this splice site has been observed in individual(s) with autosomal recessive COL12A1-related conditions (PMID: 24334604). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in exon skipping and introduces a premature termination codon (PMID: 24334604). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 204294). This variant is also known as c.8006+1G>A. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 50 of the COL12A1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. |
OMIM | RCV000186498 | SCV000239878 | pathogenic | Ullrich congenital muscular dystrophy 2 | 2014-05-01 | no assertion criteria provided | literature only |