ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.17C>T (p.Ala6Val)

gnomAD frequency: 0.00002  dbSNP: rs1477196859
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704283 SCV000833226 uncertain significance Beckwith-Wiedemann syndrome 2023-09-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CDKN1C-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CDKN1C protein function. ClinVar contains an entry for this variant (Variation ID: 580672). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 17 of the CDKN1C protein (p.Ala17Val).
Fulgent Genetics, Fulgent Genetics RCV002499267 SCV002777125 uncertain significance Beckwith-Wiedemann syndrome; IMAGe syndrome 2021-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243270 SCV003944222 uncertain significance Inborn genetic diseases 2023-03-31 criteria provided, single submitter clinical testing The c.50C>T (p.A17V) alteration is located in exon 1 (coding exon 1) of the CDKN1C gene. This alteration results from a C to T substitution at nucleotide position 50, causing the alanine (A) at amino acid position 17 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV000704283 SCV005057214 uncertain significance Beckwith-Wiedemann syndrome 2024-02-09 criteria provided, single submitter clinical testing

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