ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2999_3005del (p.Tyr1000fs)

dbSNP: rs1561581273
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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 RCV004564279 SCV000816314 pathogenic Familial adenomatous polyposis 1 2018-05-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A different truncation (p.Gln1062*) that lies downstream of this variant has been determined to be pathogenic (PMID: 1316610, 8162022, 15771908). This suggests that deletion of this region of the APC protein is causative of disease. This variant has not been reported in the literature in individuals with APC-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the APC gene (p.Tyr1000Serfs*3). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1844 amino acids of the APC protein.

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