ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2229+6G>A

gnomAD frequency: 0.00015  dbSNP: rs10186160
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001182191 SCV001347548 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-09-30 criteria provided, single submitter clinical testing
Invitae RCV001366714 SCV001563027 uncertain significance Ehlers-Danlos syndrome, type 4 2023-09-20 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 922252). This sequence change falls in intron 31 of the COL3A1 gene. It does not directly change the encoded amino acid sequence of the COL3A1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs10186160, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with COL3A1-related conditions.

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