ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.3256-43T>G (p.Pro1085_Gly1086insVCVYMTSIQNMFLK) (rs587779667)

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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 RCV000087655 SCV000120547 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing
Invitae RCV000087655 SCV000830670 uncertain significance Ehlers-Danlos syndrome, type 4 2018-06-13 criteria provided, single submitter clinical testing This sequence change falls in intron 44 of the COL3A1 gene. It does not directly change the encoded amino acid sequence of the COL3A1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with vascular Ehlers–danlos syndrome (PMID: 24922459). ClinVar contains an entry for this variant (Variation ID: 101417). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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