ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.160T>A (p.Phe54Ile)

dbSNP: rs1848973334
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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 RCV001327293 SCV001518361 uncertain significance Beckwith-Wiedemann syndrome 2020-08-25 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has been observed in individual(s) with Beckwith-Wiedemann syndrome (Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with isoleucine at codon 65 of the CDKN1C protein (p.Phe65Ile). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and isoleucine.

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