ClinVar Miner

Submissions for variant NM_001159773.2(CANT1):c.71dup (p.Leu25fs)

dbSNP: rs763733217
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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 RCV001780713 SCV002193512 pathogenic not provided 2023-12-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu25Profs*65) 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 (rs763733217, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with CANT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1324008). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005014661 SCV005653163 likely pathogenic Desbuquois dysplasia 1; Epiphyseal dysplasia, multiple, 7 2024-01-12 criteria provided, single submitter clinical testing

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