ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3833G>A (p.Trp1278Ter)

dbSNP: rs1060500187
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000474369 SCV000541763 pathogenic Ehlers-Danlos syndrome, type 4 2016-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1278 (p.Trp1278*) of the COL3A1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in COL3A1 are known to be pathogenic (PMID: 24922459).

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