ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.4328C>T (p.Ala1443Val) (rs1131692326)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues RCV000496049 SCV000584182 uncertain significance Osteogenesis imperfecta type I 2016-11-16 criteria provided, single submitter clinical testing
Invitae RCV000496049 SCV000962312 uncertain significance Osteogenesis imperfecta type I 2018-09-28 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1443 of the COL1A1 protein (p.Ala1443Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with osteogenesis imperfecta (Invitae). ClinVar contains an entry for this variant (Variation ID: 431035). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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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