ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1043G>C (p.Gly348Ala)

dbSNP: rs1688218490
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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 RCV001179687 SCV001344397 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-10-14 criteria provided, single submitter clinical testing This missense variant replaces glycine with alanine at codon 348 of the COL3A1 protein. This variant changes one of the conserved glycine residues within the Gly-Xaa-Yaa repeat motifs of the triple helical domain of the COL3A1 protein that are required for the structure and stability of fibrillar collagens (PMID: 7695699, 8218237, 19344236). To our knowledge, 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). Although there is a suspicion that this variant may be associated with disease, additional clinical studies are necessary to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002483976 SCV002786628 uncertain significance Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 2022-02-09 criteria provided, single submitter clinical testing

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