ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.3141_3149TCCTGGTGC[1] (p.1047_1049APG[2]) (rs74315111)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413092 SCV000491211 pathogenic not provided 2016-11-18 criteria provided, single submitter clinical testing The c.3150_3158delTCCTGGTGC variant in the COL1A1 gene has been reported in association with lethal osteogenesis imperfecta and observed de novo (Hawkins, et al, 1991; Chen, et al, 2012). The c.3150_3158delTCCTGGTGC variant results in the in-frame deletion of 3 amino acids starting with codon Alanine 1053, denoted p.Ala1053_Gly1055del. This deletion results in the loss of one Gly-X-Y repeat within the triple helical region of the protein. Variants affecting these repeats result in poor winding of the collagen triple helix and a less functional protein. The c.3150_3158delTCCTGGTGC variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Multiple similar in-frame variants adding or removing Gly-X-Y repeats have been reported in the Human Gene Mutation Database in association with COL1A1-related disorders (Stenson et al., 2014).
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues RCV000623236 SCV000740281 pathogenic Osteogenesis imperfecta, recessive perinatal lethal 2017-11-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000413092 SCV000841073 pathogenic not provided 2018-06-29 criteria provided, single submitter clinical testing

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