ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.769T>A (p.Ser257Thr)

gnomAD frequency: 0.00001  dbSNP: rs781340171
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628552 SCV000749454 uncertain significance Beckwith-Wiedemann syndrome 2023-11-17 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 268 of the CDKN1C protein (p.Ser268Thr). This variant is present in population databases (rs781340171, 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: 524702). 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 with a negative predictive value of 80%. 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.
Baylor Genetics RCV000628552 SCV004212435 uncertain significance Beckwith-Wiedemann syndrome 2023-10-19 criteria provided, single submitter clinical testing

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