Submissions for variant NM_000088.4(COL1A1):c.386del (p.Pro129fs)

dbSNP: rs72667014

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	RCV000995512	SCV001149715	pathogenic	Osteogenesis imperfecta type I	2019-05-07	criteria provided, single submitter	clinical testing
Invitae	RCV000995512	SCV001377229	pathogenic	Osteogenesis imperfecta type I	2023-07-28	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Pro129Leufs*136) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with osteogenesis imperfecta (PMID: 16786509). ClinVar contains an entry for this variant (Variation ID: 807388). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen	RCV003326528	SCV004033569	pathogenic	not provided	2023-08-01	criteria provided, single submitter	clinical testing	COL1A1: PVS1, PM2, PS2:Moderate, PS4:Moderate