ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.3469G>C (p.Gly1157Arg)

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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 RCV001285731 SCV001472210 likely pathogenic none provided 2019-09-21 criteria provided, single submitter clinical testing The COL1A1 c.3469G>C; p.Gly1157Arg variant is reported in the literature in at least one individual affected with osteogenesis imperfecta type III (Pandya 2019). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The glycine at codon 1157 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Additionally, another variant at this codon (c.3470G>A; p.Gly1157Asp) has been reported in individuals with osteogenesis imperfecta (Li 2019). Based on available information, the p.Gly1157Arg variant is considered to be likely pathogenic. References: Li L et al. Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta. Hum Mutat. 2019 May;40(5):588-600. Pandya PP et al. Fetal Medicine E-Book: Basic Science and Clinical Practice (3rd ed.). 2019 Elsevier Health Sciences.

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