ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.500T>A (p.Leu167Gln)

dbSNP: rs1060500177
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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 RCV000690670 SCV000818369 uncertain significance Beckwith-Wiedemann syndrome 2018-04-30 criteria provided, single submitter clinical testing This sequence change replaces leucine with glutamine at codon 178 of the CDKN1C protein (p.Leu178Gln). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and glutamine. 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 has not been reported in the literature in individuals with CDKN1C-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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