ClinVar Miner

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

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000440701 SCV000603114 likely benign not specified 2019-06-27 criteria provided, single submitter clinical testing
Invitae RCV001080558 SCV000627332 benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type I 2020-11-17 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
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659368 SCV000781179 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710783 SCV000841087 benign not provided 2017-11-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001159491 SCV001321209 benign Osteogenesis imperfecta 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001159492 SCV001321210 likely benign Ehlers-danlos syndrome, arthrochalasia type, 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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