ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1564_1565del (p.Met522fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004565458 SCV004293615 pathogenic Familial adenomatous polyposis 1 2023-01-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Met522Glufs*14) in the APC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with familial adenomatous polyposis (PMID: 9375853, 20685668). This variant is also known as 1563delTA.

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