Submissions for variant NM_001122630.2(CDKN1C):c.410del (p.Pro137fs)

dbSNP: rs2133784748

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001940254	SCV002189161	pathogenic	Beckwith-Wiedemann syndrome	2022-05-21	criteria provided, single submitter	clinical testing	This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CDKN1C-related conditions. This sequence change creates a premature translational stop signal (p.Pro148Argfs*124) 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).
Pediatrics, Sichuan Provincial Hospital For Women And Children	RCV005253937	SCV005894849	pathogenic	IMAGe syndrome	2024-10-21	criteria provided, single submitter	provider interpretation	This variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CDKN1C-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p. Pro148Argfs*124*) 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