ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.-10-7T>C (rs201715947)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456489 SCV000541741 uncertain significance Beckwith-Wiedemann syndrome 2019-12-19 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 6 of the CDKN1C protein (p.Leu6Pro). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and proline. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with CDKN1C-related disease. ClinVar contains an entry for this variant (Variation ID: 404250). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197470 SCV001368223 uncertain significance Anemia; Metabolic acidosis; Abnormal facial shape; Lethargy; Cholestasis; Increased serum lactate; Elevated hepatic transaminases; Pulmonary artery stenosis; Heart murmur 2019-05-14 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the benign nature of this variant, however the evidence is insufficent to prove its benign nature. The following ACMG criteria were applied in classifying this variant: BP4. This variant was detected in heterozygous state.

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