ClinVar Miner

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

dbSNP: rs104894200
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000009290 SCV000950284 pathogenic Beckwith-Wiedemann syndrome 2023-05-15 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. Loss-of-function variants in CDKN1C are known to be pathogenic (PMID: 20503313). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Beckwith-Wiedemann syndrome (PMID: 9341892). ClinVar contains an entry for this variant (Variation ID: 8749). 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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