ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.322C>T (p.Leu108Phe)

gnomAD frequency: 0.00001  dbSNP: rs1323156745
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529970 SCV000623145 uncertain significance Beckwith-Wiedemann syndrome 2024-10-07 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 119 of the CDKN1C protein (p.Leu119Phe). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CDKN1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 453996). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt CDKN1C protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV000529970 SCV005057216 uncertain significance Beckwith-Wiedemann syndrome 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV005306053 SCV005977985 uncertain significance Inborn genetic diseases 2024-12-25 criteria provided, single submitter clinical testing The c.355C>T (p.L119F) alteration is located in exon 1 (coding exon 1) of the CDKN1C gene. This alteration results from a C to T substitution at nucleotide position 355, causing the leucine (L) at amino acid position 119 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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