ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1522_1523del (p.Leu508fs) (rs886039509)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255832 SCV000322202 likely pathogenic not provided 2016-08-22 criteria provided, single submitter clinical testing This apparently mosaic deletion of two nucleotides in APC is denoted c.1522_1523delTT at the cDNAlevel and p.Leu508AspfsX28 (L508DfsX28) at the protein level. The normal sequence, with the bases that are deletedin braces, is AAAC{TT}GACT. The deletion causes a frameshift which changes a Leucine to an Aspartic Acid at codon508, and creates a premature stop codon at position 28 of the new reading frame. This variant is predicted to causeloss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. APCc.1522_1523delTT has been observed in at least one individual with Familial adenomatous polyposis (FAP) (Lagarde2010). Based on the currently available information, we consider this deletion to be a likely pathogenic variant.

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