ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.451C>T (p.Pro151Ser)

dbSNP: rs1848950080
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202915 SCV001374050 uncertain significance Beckwith-Wiedemann syndrome 2021-05-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals 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. 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: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces proline with serine at codon 162 of the CDKN1C protein (p.Pro162Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine.

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