ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.361G>A (p.Ala121Thr)

gnomAD frequency: 0.00003  dbSNP: rs1479013685
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206181 SCV001377477 uncertain significance Beckwith-Wiedemann syndrome 2019-09-10 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CDKN1C-related conditions. This sequence change replaces alanine with threonine at codon 132 of the CDKN1C protein (p.Ala132Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine.

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