ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2284-2A>G

dbSNP: rs587779558
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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 RCV000087500 SCV002278359 pathogenic Ehlers-Danlos syndrome, type 4 2023-10-13 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 32 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). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of autosomal dominant Ehlers-Danlos syndrome, vascular type (PMID: 24922459, 29510914; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 101263). 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.
Collagen Diagnostic Laboratory, University of Washington RCV000087500 SCV000120387 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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