ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu)

dbSNP: rs318240750
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002516573 SCV003439760 pathogenic Beckwith-Wiedemann syndrome 2022-02-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 279 of the CDKN1C protein (p.Arg279Leu). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 192361). This missense change has been observed in individual(s) with clinical features of Russell-Silver syndrome (PMID: 24065356, 31976094). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency).
Centre de Recherche Saint Antoine, Université Pierre et Marie Curie RCV000172991 SCV000224006 not provided Silver-Russell syndrome 1 no assertion provided not provided
GeneReviews RCV000240673 SCV000299276 not provided IMAGe syndrome no assertion provided literature only Associated with Silver-Russell syndrome

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