ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.4384C>A (p.Pro1462Thr)

dbSNP: rs1688732943
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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 RCV001525584 SCV001735748 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-07-14 criteria provided, single submitter clinical testing This missense variant replaces proline with threonine at codon 1462 of the COL3A1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 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 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 RCV004008856 SCV004828364 uncertain significance Ehlers-Danlos syndrome, type 4 2023-08-14 criteria provided, single submitter clinical testing This missense variant replaces proline with threonine at codon 1462 of the COL3A1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 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 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.

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