ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8425dup (p.Val2809fs)

dbSNP: rs1580693467
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001017745 SCV001178876 likely pathogenic Hereditary cancer-predisposing syndrome 2018-11-09 criteria provided, single submitter clinical testing The c.8425dupG variant, located in coding exon 15 of the APC gene, results from a duplication of G at nucleotide position 8425, causing a translational frameshift with a predicted alternate stop codon (p.V2809Gfs*3). This frameshift occurs at the 3' terminus of APC and impacts the last 35 amino acids of the protein. The exact functional impact of these amino acids is unknown at this time; however, structural analysis suggests this deletion removes a known motif (Thr2841-Ser2842-Val2843) needed for protein binding involved in regulation of protein function (Slep KC et al, PLoS ONE 2012; 7(11):e50097 ; Zhang Z et al, PLoS ONE 2011 ; 6(8):e23507). Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284726 SCV001470672 uncertain significance not provided 2020-05-21 criteria provided, single submitter clinical testing

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