ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.2110G>A (p.Glu704Lys) (rs863223362)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire RCV000201324 SCV000239923 benign Abnormality of neuronal migration 2014-10-31 no assertion criteria provided clinical testing
Invitae RCV000462828 SCV000541796 uncertain significance Ehlers-Danlos syndrome, type 4 2018-08-21 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 704 of the COL3A1 protein (p.Glu704Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. 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. ClinVar contains an entry for this variant (Variation ID: 208865). 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, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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