ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2605C>A (p.Pro869Thr)

dbSNP: rs758992360
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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 RCV001185767 SCV001352045 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-10-25 criteria provided, single submitter clinical testing This missense variant replaces proline with threonine at codon 869 of the COL3A1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with COL3A1-related disorders in the literature. This variant has been identified in 1/251232 chromosomes 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.
Invitae RCV001239669 SCV001412560 likely benign Ehlers-Danlos syndrome, type 4 2023-10-17 criteria provided, single submitter clinical testing

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