ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2117C>T (p.Pro706Leu) (rs146175905)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542309 SCV000631576 uncertain significance Ehlers-Danlos syndrome, classic type 2019-05-14 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 706 of the COL5A2 protein (p.Pro706Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs146175905, ExAC 0.08%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in individuals affected with a COL5A2-related disease. ClinVar contains an entry for this variant (Variation ID: 459732). 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: "Possibly damaging"; Align-GVGD: "Class C0"). 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.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000582800 SCV000692242 uncertain significance Marfan syndrome 2016-12-30 no assertion criteria provided clinical testing

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