ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.283_300delinsG (p.Pro95fs)

dbSNP: rs1848965153
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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 RCV001242623 SCV001415721 pathogenic Beckwith-Wiedemann syndrome 2020-12-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with CDKN1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 967657). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Pro106Glyfs*13) in the CDKN1C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDKN1C are known to be pathogenic (PMID: 20503313).

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