ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.2503G>A (p.Glu835Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001373047 SCV001569747 uncertain significance not provided 2020-10-30 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 835 of the COL7A1 protein (p.Glu835Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs748398314, ExAC 0.01%). This variant has not been reported in the literature in individuals with COL7A1-related disease. 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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