ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.366C>A (p.Asp122Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004015420 SCV004840249 uncertain significance Ehlers-Danlos syndrome, type 4 2023-12-13 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with glutamic acid at codon 122 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 1/250150 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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