ClinVar Miner

Submissions for variant NM_022356.4(P3H1):c.1667del (p.Asp556fs)

dbSNP: rs2124093521
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277819 SCV002564954 likely pathogenic Osteogenesis imperfecta 2022-04-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134415 SCV003810732 likely pathogenic Osteogenesis imperfecta type 8 2022-01-24 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003134415 SCV004048232 likely pathogenic Osteogenesis imperfecta type 8 criteria provided, single submitter clinical testing The frameshift deletion p.D556Vfs*38 in P3H1 (NM_022356.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.D556Vfs*38 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation caused a frameshift mutation. The frame shifted sequence continues 38 residues until a stop codon is reached. The p.D556Vfs*38 variant is a loss of function variant in the gene P3H1, which is intolerant of Loss of Function variants. For these reasons, this variant has been classified as Likely Pathogenic.
Genome-Nilou Lab RCV003134415 SCV004177527 likely pathogenic Osteogenesis imperfecta type 8 2023-04-11 criteria provided, single submitter clinical testing

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