ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.3893C>A (p.Thr1298Asn) (rs1555571755)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533081 SCV000627254 likely pathogenic Osteogenesis imperfecta type I 2017-09-01 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 1298 of the COL1A1 protein (p.Thr1298Asn). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with osteogenesis imperfecta type IV (PMID: 24147872). In addition, family studies have indicated that this variant was not present in the parents of an individual with features of COL1A1-related disease, which suggests that it was de novo in that affected individual (Invitae). 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: "Benign"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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