Submissions for variant NM_000089.4(COL1A2):c.693+6T>G

dbSNP: rs2115888140

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001970399	SCV002255483	uncertain significance	Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1	2022-03-09	criteria provided, single submitter	clinical testing	In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has been observed in individual(s) with clinical features of osteogenesis imperfecta (Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 14 of the COL1A2 gene. It does not directly change the encoded amino acid sequence of the COL1A2 protein. It affects a nucleotide within the consensus splice site.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002276960	SCV002564799	uncertain significance	Osteogenesis imperfecta	2021-06-25	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002276961	SCV002565592	uncertain significance	Ehlers-Danlos syndrome	2018-10-01	criteria provided, single submitter	clinical testing