ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2769_2777TCCCCCTGG[1] (p.925_927PGP[1]) (rs1555572458)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001365 SCV001158563 likely pathogenic not specified 2019-06-24 criteria provided, single submitter clinical testing The COL1A1 c.2778_2786delTCCCCCTGG; p.Pro928_Pro930del variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant deletes three amino acid residues leaving the rest of the protein in-frame, but occurs in the critical triple helical domain (Ben Amor 2011). Other short in-frame deletions and duplications in this region of the protein have been reported in individuals with osteogenesis imperfecta and are considered pathogenic (Hawkins 1991, Pace 2001, Ries-Levavi 2004). Based on available information, the p.Pro928_Pro930del variant is considered to be likely pathogenic. References: Ben Amor I et al. Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta. J Osteoporos. 2011; 2011:540178. Hawkins JR et al. A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta. J Biol Chem. 1991 Nov 25;266(33):22370-4. Pace JM et al. Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta. Hum Mutat. 2001 Oct;18(4):319-26. Ries-Levavi L et al. Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. Hum Mutat. 2004 Apr;23(4):399-400.

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