ClinVar Miner

Submissions for variant NM_005430.4(WNT1):c.1026del (p.Glu343fs)

dbSNP: rs727505392
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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 RCV003556208 SCV004295023 pathogenic not provided 2023-03-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu343Serfs*50) in the WNT1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 28 amino acid(s) of the WNT1 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with early-onset osteoporosis and bone fractures (PMID: 28116328). ClinVar contains an entry for this variant (Variation ID: 180210). This variant disrupts a region of the WNT1 protein in which other variant(s) (p.Val355Phe) have been determined to be pathogenic (PMID: 23434763, 25010833). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000157063 SCV000206772 pathogenic Osteogenesis imperfecta type 15 2014-11-17 no assertion criteria provided clinical testing

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