ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.395C>T (p.Ala132Val)

gnomAD frequency: 0.00004  dbSNP: rs896475967
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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 RCV000797787 SCV000937366 uncertain significance Beckwith-Wiedemann syndrome 2023-10-04 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 143 of the CDKN1C protein (p.Ala143Val). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CDKN1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 643966). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Fulgent Genetics, Fulgent Genetics RCV002501058 SCV002814720 uncertain significance Beckwith-Wiedemann syndrome; IMAGe syndrome 2022-04-15 criteria provided, single submitter clinical testing

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