ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.174G>A (p.Met58Ile)

dbSNP: rs2133785866
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001928308 SCV002180186 uncertain significance Beckwith-Wiedemann syndrome 2020-11-20 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This sequence change replaces methionine with isoleucine at codon 69 of the CDKN1C protein (p.Met69Ile). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CDKN1C-related conditions. 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.
New York Genome Center RCV002266061 SCV002548632 uncertain significance Beckwith-Wiedemann syndrome; IMAGe syndrome 2021-06-17 criteria provided, single submitter clinical testing

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