ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2399G>A (p.Arg800Lys)

dbSNP: rs199564715
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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 RCV000539826 SCV000631642 uncertain significance Ehlers-Danlos syndrome, type 4 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 800 of the COL3A1 protein (p.Arg800Lys). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with COL3A1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736806 SCV004565043 uncertain significance not provided 2023-05-02 criteria provided, single submitter clinical testing The COL3A1 c2399G>A; p.Arg800Lys variant (rs199564715), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 459774). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.461). Due to limited information, the clinical significance of this variant is uncertain at this time.

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