ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.351_358del (p.Leu118fs)

dbSNP: rs1554938087
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628538 SCV000749440 pathogenic Beckwith-Wiedemann syndrome 2017-11-07 criteria provided, single submitter clinical testing While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Leu129Glyfs*7) in the CDKN1C gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with CDKN1C-related disease. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CDKN1C are known to be pathogenic (PMID: 20503313).

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