ClinVar Miner

Submissions for variant NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) (rs189557655)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000440701 SCV000603114 likely benign not specified 2016-09-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710783 SCV000841087 benign not provided 2017-11-16 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000659368 SCV000781179 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000710783 SCV000703498 uncertain significance not provided 2016-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000440701 SCV000516946 uncertain significance not specified 2017-02-10 criteria provided, single submitter clinical testing The P102S variant in the COL1A2 gene has been reported previously as a variant of uncertain significance in two individuals with OI type 1 who also harbor other variants in the COL1A2 gene (Lindahl et al., 2015). The P102S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Additionally, this substitution occurs at a position that is conserved in mammals. Furthermore, in silico analysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, the Exome Aggregation Consortium reports P102X was observed in 0.1% of alleles from individuals of European ancestry, including one homozygous individual, indicating it may be a rare benign variant in this population.
Invitae RCV000538843 SCV000627332 benign Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 2017-09-08 criteria provided, single submitter clinical testing

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