ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.154T>G (p.Tyr52Asp)

dbSNP: rs778520280
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003613151 SCV004501384 uncertain significance Beckwith-Wiedemann syndrome 2023-02-27 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. This variant disrupts the p.Tyr63 amino acid residue in CDKN1C. Other variant(s) that disrupt this residue have been observed in individuals with CDKN1C-related conditions (PMID: 22140035, 27436784), which suggests that this may be a clinically significant amino acid residue. 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) performed at Invitae indicates that this missense variant is not expected to disrupt CDKN1C protein function. This variant has not been reported in the literature in individuals affected with CDKN1C-related conditions. This sequence change replaces tyrosine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 63 of the CDKN1C protein (p.Tyr63Asp).

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