ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.4276A>G (p.Lys1426Glu)

gnomAD frequency: 0.00001  dbSNP: rs908421014
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587798 SCV000695375 uncertain significance not provided 2017-07-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001180322 SCV001345221 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-05-12 criteria provided, single submitter clinical testing This missense variant replaces lysine with glutamic acid at codon 1426 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 been reported in an individual affected with adolescent idiopathic scoliosis, who had a Ghent systemic score of 3 (PMID:26333736). 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 RCV004002398 SCV004828253 uncertain significance Ehlers-Danlos syndrome, type 4 2023-05-30 criteria provided, single submitter clinical testing This missense variant replaces lysine with glutamic acid at codon 1426 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). 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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