ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1402G>A (p.Val468Ile)

gnomAD frequency: 0.00003  dbSNP: rs770497661
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002241159 SCV001396057 uncertain significance Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 468 of the COL1A2 protein (p.Val468Ile). This variant is present in population databases (rs770497661, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with COL1A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 951887). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV002261310 SCV002540875 uncertain significance not provided 2022-01-05 criteria provided, single submitter clinical testing

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