ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1620del (p.Leu540fs)

dbSNP: rs1554081921
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657190 SCV000778912 pathogenic not provided 2018-03-19 criteria provided, single submitter clinical testing This deletion of one nucleotide in APC is denoted c.1620delA at the cDNA level and p.Leu540PhefsX9 (L540FfsX9) at the protein level. The normal sequence, with the base that is deleted in brackets, is ACTT[delA]CAGC. The deletion causes a frameshift which changes a Leucine to a Phenylalanine at codon 540, and creates a premature stop codon at position 9 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. APC c.1620delA has been observed in individuals with familial polyposis (Andreutti-Zaugg 1999, Hutter 2001). We consider this variant to be pathogenic.
Myriad Genetics, Inc. RCV004563561 SCV004044906 pathogenic Familial adenomatous polyposis 1 2023-05-02 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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