Submissions for variant NM_000088.4(COL1A1):c.3360del (p.Gly1121fs)

dbSNP: rs1260429820

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000518462	SCV000612905	pathogenic	not provided	2014-08-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000518462	SCV000709941	pathogenic	not provided	2020-12-04	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 23529829)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001065243	SCV001230193	pathogenic	Osteogenesis imperfecta type I	2023-07-13	criteria provided, single submitter	clinical testing	This premature translational stop signal has been observed in individual(s) with osteogenesis imperfecta type I (PMID: 23529829). This sequence change creates a premature translational stop signal (p.Gly1121Alafs*118) in the COL1A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL1A1 are known to be pathogenic (PMID: 7942841, 9295084, 9443882). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 447144). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center	RCV001065243	SCV001428841	likely pathogenic	Osteogenesis imperfecta type I	2018-12-13	criteria provided, single submitter	clinical testing
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	RCV003326449	SCV003927968	pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form	2023-04-01	no assertion criteria provided	clinical testing