ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.1610delG

dbSNP: rs587779702
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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 RCV000087703 SCV000756035 pathogenic Ehlers-Danlos syndrome, type 4 2017-10-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly537Alafs*254) in the COL3A1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with Ehlers–Danlos syndrome (PMID: 24922459). ClinVar contains an entry for this variant (Variation ID: 101464). Loss-of-function variants in COL3A1 are known to be pathogenic (PMID: 24922459). For these reasons, this variant has been classified as Pathogenic.
Collagen Diagnostic Laboratory, University of Washington RCV000087703 SCV000120595 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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