ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1816-6T>G

gnomAD frequency: 0.00001  dbSNP: rs1474453319
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605468 SCV000718399 likely benign not specified 2017-04-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV003528206 SCV004362975 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-03-07 criteria provided, single submitter clinical testing This variant causes a T to G nucleotide substitution at the -6 position of intron 25 of the COL3A1 gene. 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 2/251302 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003633524 SCV004512426 likely benign Ehlers-Danlos syndrome, type 4 2024-01-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003633524 SCV004843604 uncertain significance Ehlers-Danlos syndrome, type 4 2023-11-02 criteria provided, single submitter clinical testing This variant causes a T to G nucleotide substitution at the -6 position of intron 25 of the COL3A1 gene. 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 2/251302 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.

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