ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3542T>G (p.Val1181Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698422 SCV000827083 uncertain significance Ehlers-Danlos syndrome, classic type 2018-06-01 criteria provided, single submitter clinical testing This sequence change replaces valine with glycine at codon 1181 of the COL5A2 protein (p.Val1181Gly). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glycine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with COL5A2-related disease. 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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