ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3668C>T (p.Pro1223Leu) (rs753383064)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000264785 SCV000425619 uncertain significance Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000551944 SCV000631600 uncertain significance Ehlers-Danlos syndrome, classic type 2017-03-30 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1223 of the COL5A2 protein (p.Pro1223Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs753383064, ExAC 0.002%) but has not been reported in the literature in individuals with a COL5A2-related disease. ClinVar contains an entry for this variant (Variation ID: 333131). 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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