ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3098A>T (p.Asp1033Val)

gnomAD frequency: 0.00001  dbSNP: rs1060500206
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000475740 SCV000541815 uncertain significance Ehlers-Danlos syndrome, type 4 2016-09-02 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 1033 of the COL3A1 protein (p.Asp1033Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a COL3A1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Color Diagnostics, LLC DBA Color Health RCV001181373 SCV001346506 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-09-05 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with valine at codon 1033 of the COL3A1 protein. Computational prediction tool suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >=0.7, 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 been identified in 1/251394 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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