ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.148T>A (p.Trp50Arg)

dbSNP: rs1848973963
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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 RCV001315125 SCV001505681 uncertain significance Beckwith-Wiedemann syndrome 2020-10-12 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 (SIFT, PolyPhen-2, Align-GVGD) all 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. This missense change has been observed in individual(s) with Beckwith-Wiedemann syndrome (PMID: 31804259). This variant is not present in population databases (ExAC no frequency). This sequence change replaces tryptophan with arginine at codon 61 of the CDKN1C protein (p.Trp61Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine.

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