ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.91C>A (p.Leu31Met)

dbSNP: rs2133786240
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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 RCV001900471 SCV002140185 uncertain significance Beckwith-Wiedemann syndrome 2021-02-18 criteria provided, single submitter clinical testing 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.Leu42 amino acid residue in CDKN1C. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11414765, 26077438, Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CDKN1C-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with methionine at codon 42 of the CDKN1C protein (p.Leu42Met). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and methionine.

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