ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2220G>A (p.Lys740=)

gnomAD frequency: 0.00001  dbSNP: rs541557925
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000228434 SCV000283459 uncertain significance Ehlers-Danlos syndrome, type 4 2018-03-16 criteria provided, single submitter clinical testing This sequence change affects codon 740 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 not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL3A1-related disease. ClinVar contains an entry for this variant (Variation ID: 236993). 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.
Color Diagnostics, LLC DBA Color Health RCV000772066 SCV000905095 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-12-04 criteria provided, single submitter clinical testing This synonymous variant in the COL3A1 gene is predicted to disrupt RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV000228434 SCV004825387 uncertain significance Ehlers-Danlos syndrome, type 4 2022-11-28 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 not impact RNA splicing by creating a new splice donor site. 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 is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.

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