ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7391_7392CT[1] (p.Leu2465fs) (rs1554088313)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657436 SCV000779171 likely pathogenic not provided 2018-03-12 criteria provided, single submitter clinical testing This deletion of two nucleotides in APC is denoted c.7393_7394delCT at the cDNA level and p.Leu2465PhefsX5 (L2465FfsX5) at the protein level. The normal sequence, with the bases that are deleted in brackets, is ATCT[delCT]TTCT. The deletion causes a frameshift which changes a Leucine to a Phenylalanine at codon 2465, and creates a premature stop codon at position 5 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through protein truncation as the last 379 amino acids are lost and replaced with 5 incorrect amino acids. The disrupted region at the end of the gene is located within the EB1 and hDLG binding domains (Azzopardi 2008). Based on currently available evidence, we consider this deletion to be a likely pathogenic variant.

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