ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.771_786del (p.Gly258fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001051378 SCV001215530 likely pathogenic Beckwith-Wiedemann syndrome 2019-12-11 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CDKN1C gene (p.Gly269Ilefs*47). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 48 amino acids of the CDKN1C protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CDKN1C-related conditions. This variant disrupts the C-terminus of the CDKN1C protein. Other variant(s) that disrupt this region (p.Ser282) have been observed in individuals with CDKN1C-related conditions (PMID: 19386358, 10424811). This suggests that this may be a clinically significant region of the protein. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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