ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.-10-5C>T

gnomAD frequency: 0.00013  dbSNP: rs374634184
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469288 SCV000541748 uncertain significance Beckwith-Wiedemann syndrome 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 7 of the CDKN1C protein (p.Arg7Cys). This variant is present in population databases (rs374634184, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. 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: 404257). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Baylor Genetics RCV000469288 SCV004212461 uncertain significance Beckwith-Wiedemann syndrome 2022-09-23 criteria provided, single submitter clinical testing

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