ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.193C>T (p.Arg65Cys)

gnomAD frequency: 0.00002  dbSNP: rs750526402
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628559 SCV000749461 uncertain significance Beckwith-Wiedemann syndrome 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 76 of the CDKN1C protein (p.Arg76Cys). 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: 524709). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CDKN1C protein function. 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.
GeneDx RCV001766334 SCV001997885 uncertain significance not provided 2019-10-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Fulgent Genetics, Fulgent Genetics RCV002499021 SCV002814091 uncertain significance Beckwith-Wiedemann syndrome; IMAGe syndrome 2021-07-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002533164 SCV003737703 uncertain significance Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing The c.226C>T (p.R76C) 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 226, causing the arginine (R) at amino acid position 76 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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