ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.317C>G (p.Pro106Arg)

gnomAD frequency: 0.00003  dbSNP: rs945890937
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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 RCV000553814 SCV000623144 uncertain significance Beckwith-Wiedemann syndrome 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 117 of the CDKN1C protein (p.Pro117Arg). This variant is present in population databases (no rsID available, gnomAD 0.004%). 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: 453995). 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.
Fulgent Genetics, Fulgent Genetics RCV002497038 SCV002813310 uncertain significance Beckwith-Wiedemann syndrome; IMAGe syndrome 2021-10-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV000553814 SCV004212445 uncertain significance Beckwith-Wiedemann syndrome 2023-08-20 criteria provided, single submitter clinical testing

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