ClinVar Miner

Submissions for variant NM_005430.4(WNT1):c.681C>A (p.Cys227Ter)

dbSNP: rs2137625115
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001874965 SCV002140666 pathogenic not provided 2022-07-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1372966). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with osteogenesis imperfecta (PMID: 29935254, 30715774). This sequence change creates a premature translational stop signal (p.Cys227*) in the WNT1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 144 amino acid(s) of the WNT1 protein. This variant is not present in population databases (gnomAD no frequency).
Fulgent Genetics, Fulgent Genetics RCV005006132 SCV005634649 likely pathogenic Osteogenesis imperfecta type 15; OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO 2024-03-13 criteria provided, single submitter clinical testing

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