ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.-10-13C>T

gnomAD frequency: 0.00001  dbSNP: rs201368350
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000628528 SCV000749430 uncertain significance Beckwith-Wiedemann syndrome 2024-12-04 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 4 of the CDKN1C protein (p.Ala4Val). This variant is present in population databases (rs201368350, gnomAD 0.007%). This missense change has been observed in individual(s) with Beckwith-Wiedemann syndrome (PMID: 20503313). ClinVar contains an entry for this variant (Variation ID: 524682). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814202 SCV002061666 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing No ACMG evidence could be applied applied
Fulgent Genetics, Fulgent Genetics RCV005044912 SCV005676043 uncertain significance Beckwith-Wiedemann syndrome; IMAGe syndrome 2024-03-08 criteria provided, single submitter clinical testing

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