ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.719C>T (p.Ala240Val)

dbSNP: rs765542916
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000697477 SCV000826089 uncertain significance Beckwith-Wiedemann syndrome 2024-07-29 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 251 of the CDKN1C protein (p.Ala251Val). 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 variant has not been reported in the literature in individuals affected with CDKN1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 575298). 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 with a negative predictive value of 80%. 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 RCV002485701 SCV002785398 likely benign Beckwith-Wiedemann syndrome; IMAGe syndrome 2024-04-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002533489 SCV003718356 uncertain significance Inborn genetic diseases 2021-07-16 criteria provided, single submitter clinical testing The c.752C>T (p.A251V) 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 752, causing the alanine (A) at amino acid position 251 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV000697477 SCV004212431 uncertain significance Beckwith-Wiedemann syndrome 2023-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692149 SCV005191127 uncertain significance not provided criteria provided, single submitter not provided

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