ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3093+1G>T

dbSNP: rs869312034
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770600 SCV000902049 likely pathogenic Familial thoracic aortic aneurysm and aortic dissection 2017-06-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003633543 SCV004452583 pathogenic Ehlers-Danlos syndrome, type 4 2023-04-06 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 42 of the COL3A1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 2365710). ClinVar contains an entry for this variant (Variation ID: 626859). This variant is also known as G+1(IVS42). Disruption of this splice site has been observed in individual(s) with autosomal dominant Ehlers-Danlos syndrome (PMID: 2365710).

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