ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.383TCCCGG[1] (p.128VP[1])

dbSNP: rs1848956788
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV001843884 SCV002103086 uncertain significance not provided 2022-01-24 criteria provided, single submitter clinical testing PM2, PM4
Labcorp Genetics (formerly Invitae), Labcorp RCV003611562 SCV004485124 uncertain significance Beckwith-Wiedemann syndrome 2022-12-24 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 affected with CDKN1C-related conditions. This variant, c.422_427del, results in the deletion of 2 amino acid(s) of the CDKN1C protein (p.Val141_Pro142del), but otherwise preserves the integrity of the reading frame.

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