ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.386dup (p.Gly130fs)

dbSNP: rs72667014
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000505621 SCV002174393 pathogenic Osteogenesis imperfecta type I 2021-04-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly130Trpfs*39) 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). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with osteogenesis imperfecta (PMID: 16786509). This variant is also known as c.386_387insC. ClinVar contains an entry for this variant (Variation ID: 438674). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database.
CeGaT Center for Human Genetics Tuebingen RCV003222010 SCV003917946 pathogenic not provided 2023-01-01 criteria provided, single submitter clinical testing COL1A1: PVS1, PM2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000505621 SCV000599828 pathogenic Osteogenesis imperfecta type I 2017-04-20 no assertion criteria provided clinical testing

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