ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.1662C>T (p.Pro554=) (rs373963384)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000772103 SCV000905139 uncertain significance Thoracic aortic aneurysm and aortic dissection 2018-10-17 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This synonymous variant does not change the amino acid sequence of the COL3A1 protein. However, computational splicing tools suggest that this variant may impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 9/276856 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.
Invitae RCV000548509 SCV000631631 uncertain significance Ehlers-Danlos syndrome, type 4 2018-11-02 criteria provided, single submitter clinical testing This sequence change affects codon 554 of the COL3A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL3A1 protein. This variant is present in population databases (rs373963384, ExAC 0.002%). This variant has not been reported in the literature in individuals with COL3A1-related disease. ClinVar contains an entry for this variant (Variation ID: 459767). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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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