ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6390_6391del (p.Asp2131fs)

dbSNP: rs1554087390
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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 RCV000566854 SCV000675928 pathogenic Hereditary cancer-predisposing syndrome 2017-02-07 criteria provided, single submitter clinical testing The c.6390_6391delTG pathogenic mutation, located in coding exon 15 of the APC gene, results from a deletion of two nucleotides at nucleotide positions 6390 to 6391, causing a translational frameshift with a predicted alternate stop codon (p.D2131Ffs*22). This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV004562498 SCV004044856 pathogenic Familial adenomatous polyposis 1 2023-05-15 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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