ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.442G>A (p.Ala148Thr)

dbSNP: rs1237188823
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689463 SCV000817115 uncertain significance Beckwith-Wiedemann syndrome 2018-03-23 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 159 of the CDKN1C protein (p.Ala159Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. 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. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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 disease.
Fulgent Genetics, Fulgent Genetics RCV005049657 SCV005676022 uncertain significance Beckwith-Wiedemann syndrome; IMAGe syndrome 2024-05-08 criteria provided, single submitter clinical testing

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