ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.458C>T (p.Pro153Leu) (rs1315960524)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536339 SCV000623154 uncertain significance Beckwith-Wiedemann syndrome 2019-12-03 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 164 of the CDKN1C protein (p.Pro164Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant was reported in a fetus with suspected Beckwith Wiedemann syndrome and their unaffected mother (PMID: 26061650). ClinVar contains an entry for this variant (Variation ID:454005). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT and Align-GVGD) suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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