ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.555GGCCCC[4] (p.Pro205_Asp206insAlaProAlaPro)

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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 RCV002814334 SCV003034847 uncertain significance Beckwith-Wiedemann syndrome 2023-07-17 criteria provided, single submitter clinical testing This variant, c.588_599dup, results in the insertion of 4 amino acid(s) of the CDKN1C protein (p.Ala213_Pro216dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CDKN1C-related conditions. 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.

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