ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.827C>T (p.Ser276Leu)

gnomAD frequency: 0.00001  dbSNP: rs928007699
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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 RCV000628540 SCV000749442 uncertain significance Beckwith-Wiedemann syndrome 2024-02-19 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 287 of the CDKN1C protein (p.Ser287Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 524692). 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.
PreventionGenetics, part of Exact Sciences RCV003411487 SCV004108794 uncertain significance CDKN1C-related disorder 2023-05-03 criteria provided, single submitter clinical testing The CDKN1C c.860C>T variant is predicted to result in the amino acid substitution p.Ser287Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0072% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-2905325-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Baylor Genetics RCV000628540 SCV004212449 uncertain significance Beckwith-Wiedemann syndrome 2023-07-07 criteria provided, single submitter clinical testing

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