ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.985A>G (p.Met329Val) (rs140785678)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000591532 SCV000700751 uncertain significance not provided 2017-01-06 criteria provided, single submitter clinical testing
Invitae RCV000706393 SCV000835438 uncertain significance Ehlers-Danlos syndrome, classic type 2018-04-20 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 329 of the COL5A2 protein (p.Met329Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs140785678, ExAC 0.06%). This variant has not been reported in the literature in individuals with COL5A2-related disease. 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 C15"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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