ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.653A>C (p.Asn218Thr)

dbSNP: rs1848926162
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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 RCV001051796 SCV001215974 uncertain significance Beckwith-Wiedemann syndrome 2019-02-25 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 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 asparagine with threonine at codon 229 of the CDKN1C protein (p.Asn229Thr). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and threonine.

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