ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.581_616dup (p.Pro205_Asp206insAlaProAlaProAlaProAlaProAlaProAlaPro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003503263 SCV004325428 uncertain significance Beckwith-Wiedemann syndrome 2023-09-21 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with CDKN1C-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.614_649dup, results in the insertion of 12 amino acid(s) of the CDKN1C protein (p.Ala205_Pro216dup), but otherwise preserves the integrity of the reading frame.

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