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 While this particular variant has not been reported in the literature, loss-of-function variants in COL3A1 are known to be pathogenic (PMID: 24922459). 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.

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