ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1444G>C (p.Ala482Pro)

gnomAD frequency: 0.00001  dbSNP: rs374532173
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001175913 SCV001339724 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-12-05 criteria provided, single submitter clinical testing This missense variant replaces alanine with proline at codon 482 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 been identified in 1/251202 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.
GeneDx RCV001562576 SCV001785361 uncertain significance not provided 2020-03-20 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Occurs in the triple helical domain at the Y position in the canonical Gly-X-Y repeat; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002480586 SCV002776564 uncertain significance Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 2021-10-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000301 SCV004832412 uncertain significance Ehlers-Danlos syndrome, type 4 2023-12-18 criteria provided, single submitter clinical testing This missense variant replaces alanine with proline at codon 482 of the COL3A1 protein. Computational prediction tool indicates that this variant may have a neutral impact on protein structure and function. 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 1/251202 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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