ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2534dup (p.Gly846fs)

dbSNP: rs587779653
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508128 SCV001714070 pathogenic not provided 2019-05-20 criteria provided, single submitter clinical testing PVS1, PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV000087634 SCV002229899 pathogenic Ehlers-Danlos syndrome, type 4 2021-07-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 101396). This premature translational stop signal has been observed in individual(s) with vascular Ehlers-Danlos syndrome (PMID: 24922459). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly846Trpfs*17) in the COL3A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL3A1 are known to be pathogenic (PMID: 24922459).
Collagen Diagnostic Laboratory, University of Washington RCV000087634 SCV000120525 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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