ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.1149+1G>A (p.Gly351_Pro383del) (rs587779443)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Collagen Diagnostic Laboratory,University of Washington RCV000018743 SCV000120249 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing
Invitae RCV000018743 SCV000631618 pathogenic Ehlers-Danlos syndrome, type 4 2017-04-05 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 16 of the COL3A1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been reported in the literature in individuals with a COL3A1-related disease (PMID: 2365710, 9399899). This variant is also known in the literature as IVS17+1G>A. ClinVar contains an entry for this variant (Variation ID: 17203). Experimental studies have shown that this variant leads to the in-frame skipping of COL3A1 exon 16, that codes for 11 Gly-X-Y motifs of the triple helix (TH) domain of the protein (PMID: 2365710, 9399899). In-frame skipping of exons that code for portions of the TH domain are a well known cause of vascular Ehlers-Danlos syndrome (PMID: 9399899, 24922459). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000018743 SCV000039026 pathogenic Ehlers-Danlos syndrome, type 4 1990-07-15 no assertion criteria provided literature only

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