ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.707C>A (p.Ser236Ter) (rs104894200)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000009290 SCV000950284 pathogenic Beckwith-Wiedemann syndrome 2018-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser247*) in the CDKN1C gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Beckwith-Wiedemann syndrome (PMID: 9341892). This variant has also been reported as c.1000C>A. ClinVar contains an entry for this variant (Variation ID: 8749). Loss-of-function variants in CDKN1C are known to be pathogenic (PMID: 20503313). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000009290 SCV000029508 pathogenic Beckwith-Wiedemann syndrome 1997-10-01 no assertion criteria provided literature only

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