ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.677C>G (p.Pro226Arg)

dbSNP: rs1848923335
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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 RCV001348974 SCV001543301 uncertain significance Beckwith-Wiedemann syndrome 2020-06-13 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 237 of the CDKN1C protein (p.Pro237Arg). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and arginine. 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.

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