ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.460G>A (p.Val154Ile)

dbSNP: rs1060500172
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458924 SCV000541730 uncertain significance Beckwith-Wiedemann syndrome 2020-04-08 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 an individual with a CDKN1C-related disease. This sequence change replaces valine with isoleucine at codon 165 of the CDKN1C protein (p.Val165Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine.

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