ClinVar Miner

Submissions for variant NM_001278074.1(COL5A1):c.3398G>A (p.Arg1133Gln) (rs759580799)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542708 SCV000631493 uncertain significance Ehlers-Danlos syndrome, classic type 2017-03-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 1133 of the COL5A1 protein (p.Arg1133Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs759580799, ExAC 0.03%) but has not been reported in the literature in individuals with a COL5A1-related disease. 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.
Fulgent Genetics,Fulgent Genetics RCV000542708 SCV000897501 uncertain significance Ehlers-Danlos syndrome, classic type 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000999273 SCV001155823 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing

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