ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.735_755del (p.Ala246_Ala252del)

dbSNP: rs2133782047
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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 RCV001993583 SCV002249590 uncertain significance Beckwith-Wiedemann syndrome 2021-02-17 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with CDKN1C-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.768_788del, results in the deletion of 7 amino acid(s) of the CDKN1C protein (p.Ala257_Ala263del), but otherwise preserves the integrity of the reading frame.

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