Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000369412 | SCV000345728 | pathogenic | not provided | 2016-09-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000369412 | SCV003837261 | likely pathogenic | not provided | 2022-08-30 | criteria provided, single submitter | clinical testing | Nonsense 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; This variant is associated with the following publications: (PMID: 24498616) |
Genome- |
RCV003454835 | SCV004177985 | likely pathogenic | Osteogenesis imperfecta type 8 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003454835 | SCV004291798 | pathogenic | Osteogenesis imperfecta type 8 | 2023-11-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu374*) in the P3H1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in P3H1 are known to be pathogenic (PMID: 17277775, 18566967, 19088120, 22281939). This variant is present in population databases (rs140468248, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with osteogenesis imperfecta (PMID: 24498616). ClinVar contains an entry for this variant (Variation ID: 291047). For these reasons, this variant has been classified as Pathogenic. |