ClinVar Miner

Submissions for variant NM_001159773.2(CANT1):c.188del (p.Arg63fs)

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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 RCV003695214 SCV004435515 pathogenic not provided 2023-03-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg63Profs*67) in the CANT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CANT1 are known to be pathogenic (PMID: 19853239, 21037275, 22539336). This variant is present in population databases (rs752656397, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CANT1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005014853 SCV005653162 likely pathogenic Desbuquois dysplasia 1; Epiphyseal dysplasia, multiple, 7 2024-06-03 criteria provided, single submitter clinical testing

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