ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.913C>T (p.Arg305Trp)

dbSNP: rs2133779874
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001906910 SCV002177853 uncertain significance Beckwith-Wiedemann syndrome 2023-08-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1406444). This variant is also known as 2739C>T. This missense change has been observed in individual(s) with Beckwith-Wiedemann syndrome (PMID: 10424811). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 316 of the CDKN1C protein (p.Arg316Trp). 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. Experimental studies have shown that this missense change affects CDKN1C function (PMID: 34299047).
Baylor Genetics RCV001906910 SCV004212436 uncertain significance Beckwith-Wiedemann syndrome 2023-10-19 criteria provided, single submitter clinical testing

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