ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.43C>G (p.Arg15Gly)

dbSNP: rs765255367
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000801017 SCV000940766 uncertain significance Beckwith-Wiedemann syndrome 2024-11-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 26 of the CDKN1C protein (p.Arg26Gly). This variant is not present in population databases (gnomAD no frequency). 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: 646679). 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) has been performed 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 RCV002477831 SCV002782666 uncertain significance Beckwith-Wiedemann syndrome; IMAGe syndrome 2021-12-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV000801017 SCV004212440 uncertain significance Beckwith-Wiedemann syndrome 2023-10-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908097 SCV004720372 uncertain significance CDKN1C-related disorder 2023-12-04 no assertion criteria provided clinical testing The CDKN1C c.76C>G variant is predicted to result in the amino acid substitution p.Arg26Gly. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is reported with uncertain significance in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/646679/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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