ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1863_1866del (p.Tyr622fs)

dbSNP: rs1764719091
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268810 SCV001447998 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004562120 SCV003525739 pathogenic Familial adenomatous polyposis 1 2022-04-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is also known as 1866 TAC-TAG; Tyr-Stop. This premature translational stop signal has been observed in individual(s) with familial adenomatous polyposis (PMID: 11247896, 33654310). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr622Glyfs*7) 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).
Myriad Genetics, Inc. RCV004562120 SCV004044709 pathogenic Familial adenomatous polyposis 1 2023-05-03 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
GeneDx RCV001268810 SCV005201641 pathogenic not provided 2023-09-21 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Also known as 1863delTTAC; This variant is associated with the following publications: (PMID: 33654310, 35968980, 11247896)

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