ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3202-2A>G

dbSNP: rs587779682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000087678 SCV000631661 pathogenic Ehlers-Danlos syndrome, type 4 2023-07-17 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individuals with clinical features of autosomal dominant COL3A1-related conditions (PMID: 17224388; Invitae). This variant is also known as IVS44-2A>G. ClinVar contains an entry for this variant (Variation ID: 101440). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 43 of the COL3A1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL3A1 are known to be pathogenic (PMID: 24922459).
Collagen Diagnostic Laboratory, University of Washington RCV000087678 SCV000120570 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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