ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1264A>G (p.Asn422Asp)

dbSNP: rs1688252085
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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 RCV001176227 SCV001340110 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-10-18 criteria provided, single submitter clinical testing This missense variant replaces asparagine with aspartic acid at codon 422 of the COL3A1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, 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 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 RCV004000330 SCV004826996 uncertain significance Ehlers-Danlos syndrome, type 4 2023-11-02 criteria provided, single submitter clinical testing This missense variant replaces asparagine with aspartic acid at codon 422 of the COL3A1 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on protein structure and function. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed 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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