ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.-10-10dup

dbSNP: rs1564930907
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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 RCV001385853 SCV001585847 uncertain significance Beckwith-Wiedemann syndrome 2023-06-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu6Profs*119) in the CDKN1C gene. It is unclear whether it will result in an absent or disrupted protein product because an in-frame methionine located at codon 12 has the potential to rescue this variant. 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. Studies have shown that the CDKN1C protein created from a downstream translation initiation methionine at codon 12 (Met12) is an abundant CDKN1C isoform (PMID: 33443097). Also, there is no characterized functional domain before Met12, suggesting that variants affecting the region may not be functionally disruptive. ClinVar contains an entry for this variant (Variation ID: 1072995). This variant has not been reported in the literature in individuals affected with CDKN1C-related conditions. This variant is present in population databases (no rsID available, gnomAD no frequency).

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