ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1976A>G (p.Glu659Gly)

gnomAD frequency: 0.00002  dbSNP: rs766488808
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000631530 SCV000752612 uncertain significance Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 2017-09-21 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 659 of the COL1A2 protein (p.Glu659Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is present in population databases (rs766488808, ExAC 0.01%). This variant has not been reported in the literature in individuals with COL1A2-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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