ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.3202-2A>G (p.Gly1068_Pro1085del) (rs587779682)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Collagen Diagnostic Laboratory,University of Washington RCV000087678 SCV000120570 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing
Invitae RCV000087678 SCV000631661 likely pathogenic Ehlers-Danlos syndrome, type 4 2017-02-06 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 43 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 an individual affected with Ehlers-Danlos syndrome type IV (PMID: 17224388). ClinVar contains an entry for this variant (Variation ID: 101440). In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in COL3A1 are known to be pathogenic (PMID: 24922459). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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