ClinVar Miner

Submissions for variant NM_022356.4(P3H1):c.1120G>T (p.Glu374Ter)

dbSNP: rs140468248
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000369412 SCV000345728 pathogenic not provided 2016-09-22 criteria provided, single submitter clinical testing
GeneDx 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-Nilou Lab RCV003454835 SCV004177985 likely pathogenic Osteogenesis imperfecta type 8 2023-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp 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.

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